id sid tid token lemma pos work_xtgybuyxajfdjlqwibuztzvroa 1 1 doi:10.1086/383205 doi:10.1086/383205 NNP work_xtgybuyxajfdjlqwibuztzvroa 1 2 777 777 CD work_xtgybuyxajfdjlqwibuztzvroa 1 3 Letter Letter NNP work_xtgybuyxajfdjlqwibuztzvroa 1 4 to to IN work_xtgybuyxajfdjlqwibuztzvroa 1 5 the the DT work_xtgybuyxajfdjlqwibuztzvroa 1 6 Editor Editor NNP work_xtgybuyxajfdjlqwibuztzvroa 1 7 Am Am NNP work_xtgybuyxajfdjlqwibuztzvroa 1 8 . . . work_xtgybuyxajfdjlqwibuztzvroa 2 1 J. J. NNP work_xtgybuyxajfdjlqwibuztzvroa 2 2 Hum Hum NNP work_xtgybuyxajfdjlqwibuztzvroa 2 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 3 1 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 3 2 . . . work_xtgybuyxajfdjlqwibuztzvroa 4 1 74:777–780 74:777–780 CD work_xtgybuyxajfdjlqwibuztzvroa 4 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 4 3 2004 2004 CD work_xtgybuyxajfdjlqwibuztzvroa 4 4 Novel Novel NNP work_xtgybuyxajfdjlqwibuztzvroa 4 5 Truncating Truncating NNP work_xtgybuyxajfdjlqwibuztzvroa 4 6 Mutations Mutations NNPS work_xtgybuyxajfdjlqwibuztzvroa 4 7 in in IN work_xtgybuyxajfdjlqwibuztzvroa 4 8 the the DT work_xtgybuyxajfdjlqwibuztzvroa 4 9 Polyglutamine Polyglutamine NNP work_xtgybuyxajfdjlqwibuztzvroa 4 10 Tract Tract NNP work_xtgybuyxajfdjlqwibuztzvroa 4 11 Binding Binding NNP work_xtgybuyxajfdjlqwibuztzvroa 4 12 Protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 4 13 1 1 CD work_xtgybuyxajfdjlqwibuztzvroa 4 14 Gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 4 15 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 4 16 PQBP1 pqbp1 NN work_xtgybuyxajfdjlqwibuztzvroa 4 17 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 4 18 Cause cause VB work_xtgybuyxajfdjlqwibuztzvroa 4 19 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 4 20 Syndrome Syndrome NNP work_xtgybuyxajfdjlqwibuztzvroa 4 21 and and CC work_xtgybuyxajfdjlqwibuztzvroa 4 22 X X NNP work_xtgybuyxajfdjlqwibuztzvroa 4 23 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 4 24 Linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 4 25 Mental Mental NNP work_xtgybuyxajfdjlqwibuztzvroa 4 26 Retardation Retardation NNP work_xtgybuyxajfdjlqwibuztzvroa 4 27 in in IN work_xtgybuyxajfdjlqwibuztzvroa 4 28 Another another DT work_xtgybuyxajfdjlqwibuztzvroa 4 29 Family Family NNP work_xtgybuyxajfdjlqwibuztzvroa 4 30 with with IN work_xtgybuyxajfdjlqwibuztzvroa 4 31 Microcephaly Microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 4 32 To to IN work_xtgybuyxajfdjlqwibuztzvroa 4 33 the the DT work_xtgybuyxajfdjlqwibuztzvroa 4 34 Editor editor NN work_xtgybuyxajfdjlqwibuztzvroa 4 35 : : : work_xtgybuyxajfdjlqwibuztzvroa 4 36 Although although IN work_xtgybuyxajfdjlqwibuztzvroa 4 37 several several JJ work_xtgybuyxajfdjlqwibuztzvroa 4 38 families family NNS work_xtgybuyxajfdjlqwibuztzvroa 4 39 with with IN work_xtgybuyxajfdjlqwibuztzvroa 4 40 X X NNS work_xtgybuyxajfdjlqwibuztzvroa 4 41 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 4 42 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 4 43 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 4 44 retar- retar- NNP work_xtgybuyxajfdjlqwibuztzvroa 4 45 dation dation NN work_xtgybuyxajfdjlqwibuztzvroa 4 46 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 4 47 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 4 48 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 4 49 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 4 50 Martin Martin NNP work_xtgybuyxajfdjlqwibuztzvroa 4 51 and and CC work_xtgybuyxajfdjlqwibuztzvroa 4 52 Bell Bell NNP work_xtgybuyxajfdjlqwibuztzvroa 4 53 1943 1943 CD work_xtgybuyxajfdjlqwibuztzvroa 4 54 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 4 55 Allan Allan NNP work_xtgybuyxajfdjlqwibuztzvroa 4 56 et et FW work_xtgybuyxajfdjlqwibuztzvroa 4 57 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 4 58 . . . work_xtgybuyxajfdjlqwibuztzvroa 5 1 1944 1944 CD work_xtgybuyxajfdjlqwibuztzvroa 5 2 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 5 3 Bickers Bickers NNP work_xtgybuyxajfdjlqwibuztzvroa 5 4 and and CC work_xtgybuyxajfdjlqwibuztzvroa 5 5 Adams Adams NNP work_xtgybuyxajfdjlqwibuztzvroa 5 6 1949 1949 CD work_xtgybuyxajfdjlqwibuztzvroa 5 7 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 5 8 Losowsky Losowsky NNP work_xtgybuyxajfdjlqwibuztzvroa 5 9 1961 1961 CD work_xtgybuyxajfdjlqwibuztzvroa 5 10 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 5 11 had have VBD work_xtgybuyxajfdjlqwibuztzvroa 5 12 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 5 13 reported report VBN work_xtgybuyxajfdjlqwibuztzvroa 5 14 prior prior RB work_xtgybuyxajfdjlqwibuztzvroa 5 15 to to IN work_xtgybuyxajfdjlqwibuztzvroa 5 16 the the DT work_xtgybuyxajfdjlqwibuztzvroa 5 17 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 5 18 study study NN work_xtgybuyxajfdjlqwibuztzvroa 5 19 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 5 20 Renpen- Renpen- NNP work_xtgybuyxajfdjlqwibuztzvroa 5 21 ning ning NNP work_xtgybuyxajfdjlqwibuztzvroa 5 22 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 5 23 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 5 24 . . . work_xtgybuyxajfdjlqwibuztzvroa 6 1 1962 1962 CD work_xtgybuyxajfdjlqwibuztzvroa 6 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 6 3 , , , work_xtgybuyxajfdjlqwibuztzvroa 6 4 the the DT work_xtgybuyxajfdjlqwibuztzvroa 6 5 term term NN work_xtgybuyxajfdjlqwibuztzvroa 6 6 “ " `` work_xtgybuyxajfdjlqwibuztzvroa 6 7 Renpenning renpenning JJ work_xtgybuyxajfdjlqwibuztzvroa 6 8 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 6 9 ” " '' work_xtgybuyxajfdjlqwibuztzvroa 6 10 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 6 11 MIM MIM NNP work_xtgybuyxajfdjlqwibuztzvroa 6 12 309500 309500 CD work_xtgybuyxajfdjlqwibuztzvroa 6 13 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 6 14 came come VBD work_xtgybuyxajfdjlqwibuztzvroa 6 15 into into IN work_xtgybuyxajfdjlqwibuztzvroa 6 16 general general JJ work_xtgybuyxajfdjlqwibuztzvroa 6 17 use use NN work_xtgybuyxajfdjlqwibuztzvroa 6 18 for for IN work_xtgybuyxajfdjlqwibuztzvroa 6 19 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 6 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 6 21 en- en- CC work_xtgybuyxajfdjlqwibuztzvroa 6 22 compassing compass VBG work_xtgybuyxajfdjlqwibuztzvroa 6 23 both both CC work_xtgybuyxajfdjlqwibuztzvroa 6 24 syndromic syndromic JJ work_xtgybuyxajfdjlqwibuztzvroa 6 25 and and CC work_xtgybuyxajfdjlqwibuztzvroa 6 26 nonsyndromic nonsyndromic JJ work_xtgybuyxajfdjlqwibuztzvroa 6 27 forms form NNS work_xtgybuyxajfdjlqwibuztzvroa 6 28 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 6 29 Richards Richards NNP work_xtgybuyxajfdjlqwibuztzvroa 6 30 1970 1970 CD work_xtgybuyxajfdjlqwibuztzvroa 6 31 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 6 32 Gerrard Gerrard NNP work_xtgybuyxajfdjlqwibuztzvroa 6 33 and and CC work_xtgybuyxajfdjlqwibuztzvroa 6 34 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 6 35 1974 1974 CD work_xtgybuyxajfdjlqwibuztzvroa 6 36 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 6 37 Steele Steele NNP work_xtgybuyxajfdjlqwibuztzvroa 6 38 and and CC work_xtgybuyxajfdjlqwibuztzvroa 6 39 Chorazy Chorazy NNP work_xtgybuyxajfdjlqwibuztzvroa 6 40 1974 1974 CD work_xtgybuyxajfdjlqwibuztzvroa 6 41 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 6 42 Howard Howard NNP work_xtgybuyxajfdjlqwibuztzvroa 6 43 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 6 44 Peebles Peebles NNP work_xtgybuyxajfdjlqwibuztzvroa 6 45 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 6 46 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 6 47 . . . work_xtgybuyxajfdjlqwibuztzvroa 7 1 1979 1979 CD work_xtgybuyxajfdjlqwibuztzvroa 7 2 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 7 3 Jen- Jen- NNP work_xtgybuyxajfdjlqwibuztzvroa 7 4 nings ning NNS work_xtgybuyxajfdjlqwibuztzvroa 7 5 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 7 6 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 7 7 . . . work_xtgybuyxajfdjlqwibuztzvroa 8 1 1980 1980 CD work_xtgybuyxajfdjlqwibuztzvroa 8 2 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 8 3 McLaughlin McLaughlin NNP work_xtgybuyxajfdjlqwibuztzvroa 8 4 and and CC work_xtgybuyxajfdjlqwibuztzvroa 8 5 Kriegsmann Kriegsmann NNP work_xtgybuyxajfdjlqwibuztzvroa 8 6 1980 1980 CD work_xtgybuyxajfdjlqwibuztzvroa 8 7 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 8 8 Proops Proops NNPS work_xtgybuyxajfdjlqwibuztzvroa 8 9 and and CC work_xtgybuyxajfdjlqwibuztzvroa 8 10 Webb Webb NNP work_xtgybuyxajfdjlqwibuztzvroa 8 11 1981 1981 CD work_xtgybuyxajfdjlqwibuztzvroa 8 12 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 8 13 Archidiacono Archidiacono NNP work_xtgybuyxajfdjlqwibuztzvroa 8 14 et et FW work_xtgybuyxajfdjlqwibuztzvroa 8 15 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 8 16 . . . work_xtgybuyxajfdjlqwibuztzvroa 9 1 1987 1987 CD work_xtgybuyxajfdjlqwibuztzvroa 9 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 9 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 10 1 Ren- Ren- NNP work_xtgybuyxajfdjlqwibuztzvroa 10 2 penning pen VBG work_xtgybuyxajfdjlqwibuztzvroa 10 3 et et FW work_xtgybuyxajfdjlqwibuztzvroa 10 4 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 10 5 . . . work_xtgybuyxajfdjlqwibuztzvroa 11 1 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 11 2 1962 1962 CD work_xtgybuyxajfdjlqwibuztzvroa 11 3 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 11 4 described describe VBD work_xtgybuyxajfdjlqwibuztzvroa 11 5 a a DT work_xtgybuyxajfdjlqwibuztzvroa 11 6 Mennonite Mennonite NNP work_xtgybuyxajfdjlqwibuztzvroa 11 7 family family NN work_xtgybuyxajfdjlqwibuztzvroa 11 8 in in IN work_xtgybuyxajfdjlqwibuztzvroa 11 9 which which WDT work_xtgybuyxajfdjlqwibuztzvroa 11 10 20 20 CD work_xtgybuyxajfdjlqwibuztzvroa 11 11 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 11 12 in in IN work_xtgybuyxajfdjlqwibuztzvroa 11 13 three three CD work_xtgybuyxajfdjlqwibuztzvroa 11 14 generations generation NNS work_xtgybuyxajfdjlqwibuztzvroa 11 15 had have VBD work_xtgybuyxajfdjlqwibuztzvroa 11 16 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 11 17 retar- retar- NNP work_xtgybuyxajfdjlqwibuztzvroa 11 18 dation dation NN work_xtgybuyxajfdjlqwibuztzvroa 11 19 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 11 20 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 11 21 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 11 22 . . . work_xtgybuyxajfdjlqwibuztzvroa 12 1 Manifestations manifestation NNS work_xtgybuyxajfdjlqwibuztzvroa 12 2 in in IN work_xtgybuyxajfdjlqwibuztzvroa 12 3 affected affect VBN work_xtgybuyxajfdjlqwibuztzvroa 12 4 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 12 5 included include VBD work_xtgybuyxajfdjlqwibuztzvroa 12 6 microcephaly microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 12 7 , , , work_xtgybuyxajfdjlqwibuztzvroa 12 8 short short JJ work_xtgybuyxajfdjlqwibuztzvroa 12 9 stature stature NN work_xtgybuyxajfdjlqwibuztzvroa 12 10 , , , work_xtgybuyxajfdjlqwibuztzvroa 12 11 and and CC work_xtgybuyxajfdjlqwibuztzvroa 12 12 small small JJ work_xtgybuyxajfdjlqwibuztzvroa 12 13 testes testis NNS work_xtgybuyxajfdjlqwibuztzvroa 12 14 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 12 15 carrier carrier NN work_xtgybuyxajfdjlqwibuztzvroa 12 16 fe- fe- NNP work_xtgybuyxajfdjlqwibuztzvroa 12 17 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 12 18 appeared appear VBD work_xtgybuyxajfdjlqwibuztzvroa 12 19 normal normal JJ work_xtgybuyxajfdjlqwibuztzvroa 12 20 . . . work_xtgybuyxajfdjlqwibuztzvroa 13 1 Previously previously RB work_xtgybuyxajfdjlqwibuztzvroa 13 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 13 3 we -PRON- PRP work_xtgybuyxajfdjlqwibuztzvroa 13 4 reported report VBD work_xtgybuyxajfdjlqwibuztzvroa 13 5 linkage linkage NN work_xtgybuyxajfdjlqwibuztzvroa 13 6 of of IN work_xtgybuyxajfdjlqwibuztzvroa 13 7 the the DT work_xtgybuyxajfdjlqwibuztzvroa 13 8 family family NN work_xtgybuyxajfdjlqwibuztzvroa 13 9 described describe VBN work_xtgybuyxajfdjlqwibuztzvroa 13 10 by by IN work_xtgybuyxajfdjlqwibuztzvroa 13 11 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 13 12 and and CC work_xtgybuyxajfdjlqwibuztzvroa 13 13 colleagues colleague NNS work_xtgybuyxajfdjlqwibuztzvroa 13 14 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 13 15 1962 1962 CD work_xtgybuyxajfdjlqwibuztzvroa 13 16 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 13 17 to to IN work_xtgybuyxajfdjlqwibuztzvroa 13 18 Xp11.2–p11.4 Xp11.2–p11.4 NNP work_xtgybuyxajfdjlqwibuztzvroa 13 19 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 13 20 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 13 21 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 13 22 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 13 23 . . . work_xtgybuyxajfdjlqwibuztzvroa 14 1 1998 1998 CD work_xtgybuyxajfdjlqwibuztzvroa 14 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 14 3 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 14 4 fig fig NN work_xtgybuyxajfdjlqwibuztzvroa 14 5 . . . work_xtgybuyxajfdjlqwibuztzvroa 15 1 1A 1a LS work_xtgybuyxajfdjlqwibuztzvroa 15 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 15 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 16 1 In in IN work_xtgybuyxajfdjlqwibuztzvroa 16 2 addition addition NN work_xtgybuyxajfdjlqwibuztzvroa 16 3 , , , work_xtgybuyxajfdjlqwibuztzvroa 16 4 we -PRON- PRP work_xtgybuyxajfdjlqwibuztzvroa 16 5 iden- iden- VBP work_xtgybuyxajfdjlqwibuztzvroa 16 6 tified tifie VBD work_xtgybuyxajfdjlqwibuztzvroa 16 7 another another DT work_xtgybuyxajfdjlqwibuztzvroa 16 8 family family NN work_xtgybuyxajfdjlqwibuztzvroa 16 9 exhibiting exhibit VBG work_xtgybuyxajfdjlqwibuztzvroa 16 10 microcephaly microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 16 11 and and CC work_xtgybuyxajfdjlqwibuztzvroa 16 12 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 16 13 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 16 14 fig fig NN work_xtgybuyxajfdjlqwibuztzvroa 16 15 . . . work_xtgybuyxajfdjlqwibuztzvroa 17 1 1B 1B NNP work_xtgybuyxajfdjlqwibuztzvroa 17 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 17 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 18 1 Herein Herein NNP work_xtgybuyxajfdjlqwibuztzvroa 18 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 18 3 we -PRON- PRP work_xtgybuyxajfdjlqwibuztzvroa 18 4 report report VBP work_xtgybuyxajfdjlqwibuztzvroa 18 5 truncating truncate VBG work_xtgybuyxajfdjlqwibuztzvroa 18 6 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 18 7 in in IN work_xtgybuyxajfdjlqwibuztzvroa 18 8 the the DT work_xtgybuyxajfdjlqwibuztzvroa 18 9 polyglutamine polyglutamine JJ work_xtgybuyxajfdjlqwibuztzvroa 18 10 tract tract NN work_xtgybuyxajfdjlqwibuztzvroa 18 11 binding bind VBG work_xtgybuyxajfdjlqwibuztzvroa 18 12 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 18 13 1 1 CD work_xtgybuyxajfdjlqwibuztzvroa 18 14 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 18 15 PQBP1 pqbp1 NN work_xtgybuyxajfdjlqwibuztzvroa 18 16 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 18 17 gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 18 18 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 18 19 MIM MIM NNP work_xtgybuyxajfdjlqwibuztzvroa 18 20 300463 300463 CD work_xtgybuyxajfdjlqwibuztzvroa 18 21 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 18 22 in in IN work_xtgybuyxajfdjlqwibuztzvroa 18 23 both both DT work_xtgybuyxajfdjlqwibuztzvroa 18 24 families family NNS work_xtgybuyxajfdjlqwibuztzvroa 18 25 . . . work_xtgybuyxajfdjlqwibuztzvroa 19 1 Mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 19 2 in in IN work_xtgybuyxajfdjlqwibuztzvroa 19 3 the the DT work_xtgybuyxajfdjlqwibuztzvroa 19 4 gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 19 5 that that WDT work_xtgybuyxajfdjlqwibuztzvroa 19 6 codes code VBZ work_xtgybuyxajfdjlqwibuztzvroa 19 7 for for IN work_xtgybuyxajfdjlqwibuztzvroa 19 8 the the DT work_xtgybuyxajfdjlqwibuztzvroa 19 9 polyglutam- polyglutam- VBG work_xtgybuyxajfdjlqwibuztzvroa 19 10 ine ine NNP work_xtgybuyxajfdjlqwibuztzvroa 19 11 tract tract NNP work_xtgybuyxajfdjlqwibuztzvroa 19 12 binding bind VBG work_xtgybuyxajfdjlqwibuztzvroa 19 13 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 19 14 1 1 CD work_xtgybuyxajfdjlqwibuztzvroa 19 15 , , , work_xtgybuyxajfdjlqwibuztzvroa 19 16 located locate VBN work_xtgybuyxajfdjlqwibuztzvroa 19 17 in in IN work_xtgybuyxajfdjlqwibuztzvroa 19 18 Xp11.2 Xp11.2 NNP work_xtgybuyxajfdjlqwibuztzvroa 19 19 , , , work_xtgybuyxajfdjlqwibuztzvroa 19 20 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 19 21 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 19 22 found find VBN work_xtgybuyxajfdjlqwibuztzvroa 19 23 in in IN work_xtgybuyxajfdjlqwibuztzvroa 19 24 patients patient NNS work_xtgybuyxajfdjlqwibuztzvroa 19 25 with with IN work_xtgybuyxajfdjlqwibuztzvroa 19 26 Sutherland Sutherland NNP work_xtgybuyxajfdjlqwibuztzvroa 19 27 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 19 28 Haan Haan NNP work_xtgybuyxajfdjlqwibuztzvroa 19 29 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 19 30 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 19 31 MIM MIM NNP work_xtgybuyxajfdjlqwibuztzvroa 19 32 309470 309470 CD work_xtgybuyxajfdjlqwibuztzvroa 19 33 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 19 34 , , , work_xtgybuyxajfdjlqwibuztzvroa 19 35 cerebropalatocardiac cerebropalatocardiac NN work_xtgybuyxajfdjlqwibuztzvroa 19 36 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 19 37 Hamel Hamel NNP work_xtgybuyxajfdjlqwibuztzvroa 19 38 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 19 39 syn- syn- RB work_xtgybuyxajfdjlqwibuztzvroa 19 40 drome drome NN work_xtgybuyxajfdjlqwibuztzvroa 19 41 , , , work_xtgybuyxajfdjlqwibuztzvroa 19 42 and and CC work_xtgybuyxajfdjlqwibuztzvroa 19 43 MRX55 MRX55 NNP work_xtgybuyxajfdjlqwibuztzvroa 19 44 , , , work_xtgybuyxajfdjlqwibuztzvroa 19 45 as as RB work_xtgybuyxajfdjlqwibuztzvroa 19 46 well well RB work_xtgybuyxajfdjlqwibuztzvroa 19 47 as as IN work_xtgybuyxajfdjlqwibuztzvroa 19 48 in in IN work_xtgybuyxajfdjlqwibuztzvroa 19 49 two two CD work_xtgybuyxajfdjlqwibuztzvroa 19 50 other other JJ work_xtgybuyxajfdjlqwibuztzvroa 19 51 families family NNS work_xtgybuyxajfdjlqwibuztzvroa 19 52 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 19 53 Kalscheuer Kalscheuer NNP work_xtgybuyxajfdjlqwibuztzvroa 19 54 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 19 55 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 19 56 . . . work_xtgybuyxajfdjlqwibuztzvroa 20 1 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 20 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 20 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 21 1 PQBP1 PQBP1 NNP work_xtgybuyxajfdjlqwibuztzvroa 21 2 consists consist VBZ work_xtgybuyxajfdjlqwibuztzvroa 21 3 of of IN work_xtgybuyxajfdjlqwibuztzvroa 21 4 six six CD work_xtgybuyxajfdjlqwibuztzvroa 21 5 exons exon NNS work_xtgybuyxajfdjlqwibuztzvroa 21 6 that that WDT work_xtgybuyxajfdjlqwibuztzvroa 21 7 code code NN work_xtgybuyxajfdjlqwibuztzvroa 21 8 for for IN work_xtgybuyxajfdjlqwibuztzvroa 21 9 a a DT work_xtgybuyxajfdjlqwibuztzvroa 21 10 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 21 11 of of IN work_xtgybuyxajfdjlqwibuztzvroa 21 12 265 265 CD work_xtgybuyxajfdjlqwibuztzvroa 21 13 amino amino JJ work_xtgybuyxajfdjlqwibuztzvroa 21 14 acids acid NNS work_xtgybuyxajfdjlqwibuztzvroa 21 15 . . . work_xtgybuyxajfdjlqwibuztzvroa 22 1 A a DT work_xtgybuyxajfdjlqwibuztzvroa 22 2 WW WW NNP work_xtgybuyxajfdjlqwibuztzvroa 22 3 do- do- NN work_xtgybuyxajfdjlqwibuztzvroa 22 4 main main NN work_xtgybuyxajfdjlqwibuztzvroa 22 5 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 22 6 encoded encode VBN work_xtgybuyxajfdjlqwibuztzvroa 22 7 by by IN work_xtgybuyxajfdjlqwibuztzvroa 22 8 the the DT work_xtgybuyxajfdjlqwibuztzvroa 22 9 amino amino NN work_xtgybuyxajfdjlqwibuztzvroa 22 10 acid acid NN work_xtgybuyxajfdjlqwibuztzvroa 22 11 positions position NNS work_xtgybuyxajfdjlqwibuztzvroa 22 12 47–78 47–78 CD work_xtgybuyxajfdjlqwibuztzvroa 22 13 , , , work_xtgybuyxajfdjlqwibuztzvroa 22 14 which which WDT work_xtgybuyxajfdjlqwibuztzvroa 22 15 has have VBZ work_xtgybuyxajfdjlqwibuztzvroa 22 16 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 22 17 shown show VBN work_xtgybuyxajfdjlqwibuztzvroa 22 18 to to TO work_xtgybuyxajfdjlqwibuztzvroa 22 19 play play VB work_xtgybuyxajfdjlqwibuztzvroa 22 20 an an DT work_xtgybuyxajfdjlqwibuztzvroa 22 21 important important JJ work_xtgybuyxajfdjlqwibuztzvroa 22 22 role role NN work_xtgybuyxajfdjlqwibuztzvroa 22 23 in in IN work_xtgybuyxajfdjlqwibuztzvroa 22 24 reg- reg- RB work_xtgybuyxajfdjlqwibuztzvroa 22 25 ulation ulation NN work_xtgybuyxajfdjlqwibuztzvroa 22 26 of of IN work_xtgybuyxajfdjlqwibuztzvroa 22 27 transcription transcription NN work_xtgybuyxajfdjlqwibuztzvroa 22 28 activity activity NN work_xtgybuyxajfdjlqwibuztzvroa 22 29 by by IN work_xtgybuyxajfdjlqwibuztzvroa 22 30 interacting interact VBG work_xtgybuyxajfdjlqwibuztzvroa 22 31 with with IN work_xtgybuyxajfdjlqwibuztzvroa 22 32 the the DT work_xtgybuyxajfdjlqwibuztzvroa 22 33 carboxy carboxy NN work_xtgybuyxajfdjlqwibuztzvroa 22 34 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 22 35 terminal terminal JJ work_xtgybuyxajfdjlqwibuztzvroa 22 36 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 22 37 of of IN work_xtgybuyxajfdjlqwibuztzvroa 22 38 the the DT work_xtgybuyxajfdjlqwibuztzvroa 22 39 RNA RNA NNP work_xtgybuyxajfdjlqwibuztzvroa 22 40 polymerase polymerase NN work_xtgybuyxajfdjlqwibuztzvroa 22 41 II II NNP work_xtgybuyxajfdjlqwibuztzvroa 22 42 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 22 43 Su- su- UH work_xtgybuyxajfdjlqwibuztzvroa 22 44 dol dol NNP work_xtgybuyxajfdjlqwibuztzvroa 22 45 et et FW work_xtgybuyxajfdjlqwibuztzvroa 22 46 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 22 47 . . . work_xtgybuyxajfdjlqwibuztzvroa 23 1 2001 2001 CD work_xtgybuyxajfdjlqwibuztzvroa 23 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 23 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 24 1 Additionally additionally RB work_xtgybuyxajfdjlqwibuztzvroa 24 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 24 3 a a DT work_xtgybuyxajfdjlqwibuztzvroa 24 4 polyglutamine polyglutamine NN work_xtgybuyxajfdjlqwibuztzvroa 24 5 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 24 6 binding bind VBG work_xtgybuyxajfdjlqwibuztzvroa 24 7 region region NN work_xtgybuyxajfdjlqwibuztzvroa 24 8 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 24 9 in in IN work_xtgybuyxajfdjlqwibuztzvroa 24 10 the the DT work_xtgybuyxajfdjlqwibuztzvroa 24 11 polar polar NN work_xtgybuyxajfdjlqwibuztzvroa 24 12 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 24 13 amino amino NN work_xtgybuyxajfdjlqwibuztzvroa 24 14 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 24 15 acid acid NN work_xtgybuyxajfdjlqwibuztzvroa 24 16 – – : work_xtgybuyxajfdjlqwibuztzvroa 24 17 rich rich JJ work_xtgybuyxajfdjlqwibuztzvroa 24 18 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 24 19 [ [ -LRB- work_xtgybuyxajfdjlqwibuztzvroa 24 20 PRD PRD NNP work_xtgybuyxajfdjlqwibuztzvroa 24 21 ] ] -RRB- work_xtgybuyxajfdjlqwibuztzvroa 24 22 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 24 23 , , , work_xtgybuyxajfdjlqwibuztzvroa 24 24 a a DT work_xtgybuyxajfdjlqwibuztzvroa 24 25 DR DR NNP work_xtgybuyxajfdjlqwibuztzvroa 24 26 / / SYM work_xtgybuyxajfdjlqwibuztzvroa 24 27 ER ER NNP work_xtgybuyxajfdjlqwibuztzvroa 24 28 stretch stretch NN work_xtgybuyxajfdjlqwibuztzvroa 24 29 , , , work_xtgybuyxajfdjlqwibuztzvroa 24 30 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 24 31 encoded encode VBN work_xtgybuyxajfdjlqwibuztzvroa 24 32 by by IN work_xtgybuyxajfdjlqwibuztzvroa 24 33 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 24 34 4 4 CD work_xtgybuyxajfdjlqwibuztzvroa 24 35 and and CC work_xtgybuyxajfdjlqwibuztzvroa 24 36 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 24 37 involved involve VBN work_xtgybuyxajfdjlqwibuztzvroa 24 38 in in IN work_xtgybuyxajfdjlqwibuztzvroa 24 39 transcriptional transcriptional JJ work_xtgybuyxajfdjlqwibuztzvroa 24 40 control control NN work_xtgybuyxajfdjlqwibuztzvroa 24 41 by by IN work_xtgybuyxajfdjlqwibuztzvroa 24 42 binding bind VBG work_xtgybuyxajfdjlqwibuztzvroa 24 43 to to IN work_xtgybuyxajfdjlqwibuztzvroa 24 44 the the DT work_xtgybuyxajfdjlqwibuztzvroa 24 45 polyQ polyQ NNP work_xtgybuyxajfdjlqwibuztzvroa 24 46 region region NN work_xtgybuyxajfdjlqwibuztzvroa 24 47 of of IN work_xtgybuyxajfdjlqwibuztzvroa 24 48 the the DT work_xtgybuyxajfdjlqwibuztzvroa 24 49 transcription transcription NN work_xtgybuyxajfdjlqwibuztzvroa 24 50 factor factor NN work_xtgybuyxajfdjlqwibuztzvroa 24 51 BRN2 BRN2 NNP work_xtgybuyxajfdjlqwibuztzvroa 24 52 that that IN work_xtgybuyxajfdjlqwibuztzvroa 24 53 silences silence NNS work_xtgybuyxajfdjlqwibuztzvroa 24 54 transcrip- transcrip- VBZ work_xtgybuyxajfdjlqwibuztzvroa 24 55 tion tion NN work_xtgybuyxajfdjlqwibuztzvroa 24 56 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 24 57 Sudol Sudol NNP work_xtgybuyxajfdjlqwibuztzvroa 24 58 et et FW work_xtgybuyxajfdjlqwibuztzvroa 24 59 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 24 60 . . . work_xtgybuyxajfdjlqwibuztzvroa 25 1 2001 2001 CD work_xtgybuyxajfdjlqwibuztzvroa 25 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 25 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 26 1 The the DT work_xtgybuyxajfdjlqwibuztzvroa 26 2 unifying unifying JJ work_xtgybuyxajfdjlqwibuztzvroa 26 3 findings finding NNS work_xtgybuyxajfdjlqwibuztzvroa 26 4 in in IN work_xtgybuyxajfdjlqwibuztzvroa 26 5 these these DT work_xtgybuyxajfdjlqwibuztzvroa 26 6 patients patient NNS work_xtgybuyxajfdjlqwibuztzvroa 26 7 with with IN work_xtgybuyxajfdjlqwibuztzvroa 26 8 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 26 9 are be VBP work_xtgybuyxajfdjlqwibuztzvroa 26 10 microcephaly microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 26 11 and and CC work_xtgybuyxajfdjlqwibuztzvroa 26 12 short short JJ work_xtgybuyxajfdjlqwibuztzvroa 26 13 stature stature NN work_xtgybuyxajfdjlqwibuztzvroa 26 14 . . . work_xtgybuyxajfdjlqwibuztzvroa 27 1 A a DT work_xtgybuyxajfdjlqwibuztzvroa 27 2 variety variety NN work_xtgybuyxajfdjlqwibuztzvroa 27 3 of of IN work_xtgybuyxajfdjlqwibuztzvroa 27 4 other other JJ work_xtgybuyxajfdjlqwibuztzvroa 27 5 manifestations manifestation NNS work_xtgybuyxajfdjlqwibuztzvroa 27 6 , , , work_xtgybuyxajfdjlqwibuztzvroa 27 7 including include VBG work_xtgybuyxajfdjlqwibuztzvroa 27 8 ocular ocular NNP work_xtgybuyxajfdjlqwibuztzvroa 27 9 co- co- NNP work_xtgybuyxajfdjlqwibuztzvroa 27 10 lobomas lobomas NNP work_xtgybuyxajfdjlqwibuztzvroa 27 11 , , , work_xtgybuyxajfdjlqwibuztzvroa 27 12 cleft cleft NNP work_xtgybuyxajfdjlqwibuztzvroa 27 13 palate palate NN work_xtgybuyxajfdjlqwibuztzvroa 27 14 , , , work_xtgybuyxajfdjlqwibuztzvroa 27 15 cardiac cardiac JJ work_xtgybuyxajfdjlqwibuztzvroa 27 16 defects defect NNS work_xtgybuyxajfdjlqwibuztzvroa 27 17 , , , work_xtgybuyxajfdjlqwibuztzvroa 27 18 small small JJ work_xtgybuyxajfdjlqwibuztzvroa 27 19 testes testis NNS work_xtgybuyxajfdjlqwibuztzvroa 27 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 27 21 anal anal JJ work_xtgybuyxajfdjlqwibuztzvroa 27 22 anomalies anomaly NNS work_xtgybuyxajfdjlqwibuztzvroa 27 23 , , , work_xtgybuyxajfdjlqwibuztzvroa 27 24 and and CC work_xtgybuyxajfdjlqwibuztzvroa 27 25 spasticity spasticity NN work_xtgybuyxajfdjlqwibuztzvroa 27 26 , , , work_xtgybuyxajfdjlqwibuztzvroa 27 27 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 27 28 occurred occur VBN work_xtgybuyxajfdjlqwibuztzvroa 27 29 in in IN work_xtgybuyxajfdjlqwibuztzvroa 27 30 a a DT work_xtgybuyxajfdjlqwibuztzvroa 27 31 minority minority NN work_xtgybuyxajfdjlqwibuztzvroa 27 32 of of IN work_xtgybuyxajfdjlqwibuztzvroa 27 33 patients patient NNS work_xtgybuyxajfdjlqwibuztzvroa 27 34 . . . work_xtgybuyxajfdjlqwibuztzvroa 28 1 So so RB work_xtgybuyxajfdjlqwibuztzvroa 28 2 far far RB work_xtgybuyxajfdjlqwibuztzvroa 28 3 , , , work_xtgybuyxajfdjlqwibuztzvroa 28 4 all all DT work_xtgybuyxajfdjlqwibuztzvroa 28 5 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 28 6 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 28 7 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 28 8 found find VBN work_xtgybuyxajfdjlqwibuztzvroa 28 9 in in IN work_xtgybuyxajfdjlqwibuztzvroa 28 10 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 28 11 4 4 CD work_xtgybuyxajfdjlqwibuztzvroa 28 12 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 28 13 GenBank GenBank NNP work_xtgybuyxajfdjlqwibuztzvroa 28 14 accession accession NN work_xtgybuyxajfdjlqwibuztzvroa 28 15 number number NN work_xtgybuyxajfdjlqwibuztzvroa 28 16 NM_005710 NM_005710 NNP work_xtgybuyxajfdjlqwibuztzvroa 28 17 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 28 18 , , , work_xtgybuyxajfdjlqwibuztzvroa 28 19 where where WRB work_xtgybuyxajfdjlqwibuztzvroa 28 20 they -PRON- PRP work_xtgybuyxajfdjlqwibuztzvroa 28 21 are be VBP work_xtgybuyxajfdjlqwibuztzvroa 28 22 predicted predict VBN work_xtgybuyxajfdjlqwibuztzvroa 28 23 to to TO work_xtgybuyxajfdjlqwibuztzvroa 28 24 disrupt disrupt VB work_xtgybuyxajfdjlqwibuztzvroa 28 25 the the DT work_xtgybuyxajfdjlqwibuztzvroa 28 26 polyglutamine polyglutamine NN work_xtgybuyxajfdjlqwibuztzvroa 28 27 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 28 28 binding bind VBG work_xtgybuyxajfdjlqwibuztzvroa 28 29 PRD PRD NNP work_xtgybuyxajfdjlqwibuztzvroa 28 30 and and CC work_xtgybuyxajfdjlqwibuztzvroa 28 31 to to TO work_xtgybuyxajfdjlqwibuztzvroa 28 32 shorten shorten VB work_xtgybuyxajfdjlqwibuztzvroa 28 33 the the DT work_xtgybuyxajfdjlqwibuztzvroa 28 34 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 28 35 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 28 36 Kalscheuer Kalscheuer NNP work_xtgybuyxajfdjlqwibuztzvroa 28 37 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 28 38 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 28 39 . . . work_xtgybuyxajfdjlqwibuztzvroa 29 1 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 29 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 29 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 30 1 The the DT work_xtgybuyxajfdjlqwibuztzvroa 30 2 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 30 3 in in IN work_xtgybuyxajfdjlqwibuztzvroa 30 4 the the DT work_xtgybuyxajfdjlqwibuztzvroa 30 5 family family NN work_xtgybuyxajfdjlqwibuztzvroa 30 6 described describe VBN work_xtgybuyxajfdjlqwibuztzvroa 30 7 by by IN work_xtgybuyxajfdjlqwibuztzvroa 30 8 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 30 9 and and CC work_xtgybuyxajfdjlqwibuztzvroa 30 10 colleagues colleague NNS work_xtgybuyxajfdjlqwibuztzvroa 30 11 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 30 12 1962 1962 CD work_xtgybuyxajfdjlqwibuztzvroa 30 13 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 30 14 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 30 15 an an DT work_xtgybuyxajfdjlqwibuztzvroa 30 16 insertion insertion NN work_xtgybuyxajfdjlqwibuztzvroa 30 17 of of IN work_xtgybuyxajfdjlqwibuztzvroa 30 18 one one CD work_xtgybuyxajfdjlqwibuztzvroa 30 19 cytosine cytosine NN work_xtgybuyxajfdjlqwibuztzvroa 30 20 residue residue NN work_xtgybuyxajfdjlqwibuztzvroa 30 21 in in IN work_xtgybuyxajfdjlqwibuztzvroa 30 22 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 30 23 5 5 CD work_xtgybuyxajfdjlqwibuztzvroa 30 24 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 30 25 c.641insC c.641insc CD work_xtgybuyxajfdjlqwibuztzvroa 30 26 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 30 27 . . . work_xtgybuyxajfdjlqwibuztzvroa 31 1 This this DT work_xtgybuyxajfdjlqwibuztzvroa 31 2 frameshift frameshift NN work_xtgybuyxajfdjlqwibuztzvroa 31 3 insertion insertion NN work_xtgybuyxajfdjlqwibuztzvroa 31 4 causes cause VBZ work_xtgybuyxajfdjlqwibuztzvroa 31 5 a a DT work_xtgybuyxajfdjlqwibuztzvroa 31 6 premature premature JJ work_xtgybuyxajfdjlqwibuztzvroa 31 7 stop stop NN work_xtgybuyxajfdjlqwibuztzvroa 31 8 codon codon NN work_xtgybuyxajfdjlqwibuztzvroa 31 9 at at IN work_xtgybuyxajfdjlqwibuztzvroa 31 10 amino amino JJ work_xtgybuyxajfdjlqwibuztzvroa 31 11 acid acid NN work_xtgybuyxajfdjlqwibuztzvroa 31 12 position position NNP work_xtgybuyxajfdjlqwibuztzvroa 31 13 226 226 CD work_xtgybuyxajfdjlqwibuztzvroa 31 14 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 31 15 fig fig NN work_xtgybuyxajfdjlqwibuztzvroa 31 16 . . . work_xtgybuyxajfdjlqwibuztzvroa 32 1 1A 1a LS work_xtgybuyxajfdjlqwibuztzvroa 32 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 32 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 33 1 The the DT work_xtgybuyxajfdjlqwibuztzvroa 33 2 observed observed JJ work_xtgybuyxajfdjlqwibuztzvroa 33 3 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 33 4 was be VBD work_xtgybuyxajfdjlqwibuztzvroa 33 5 found find VBN work_xtgybuyxajfdjlqwibuztzvroa 33 6 in in IN work_xtgybuyxajfdjlqwibuztzvroa 33 7 all all DT work_xtgybuyxajfdjlqwibuztzvroa 33 8 available available JJ work_xtgybuyxajfdjlqwibuztzvroa 33 9 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 33 10 with with IN work_xtgybuyxajfdjlqwibuztzvroa 33 11 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 33 12 in in IN work_xtgybuyxajfdjlqwibuztzvroa 33 13 the the DT work_xtgybuyxajfdjlqwibuztzvroa 33 14 pedigree pedigree NN work_xtgybuyxajfdjlqwibuztzvroa 33 15 , , , work_xtgybuyxajfdjlqwibuztzvroa 33 16 including include VBG work_xtgybuyxajfdjlqwibuztzvroa 33 17 one one CD work_xtgybuyxajfdjlqwibuztzvroa 33 18 male male NN work_xtgybuyxajfdjlqwibuztzvroa 33 19 who who WP work_xtgybuyxajfdjlqwibuztzvroa 33 20 was be VBD work_xtgybuyxajfdjlqwibuztzvroa 33 21 found find VBN work_xtgybuyxajfdjlqwibuztzvroa 33 22 to to TO work_xtgybuyxajfdjlqwibuztzvroa 33 23 have have VB work_xtgybuyxajfdjlqwibuztzvroa 33 24 milder milder NN work_xtgybuyxajfdjlqwibuztzvroa 33 25 cognitive cognitive JJ work_xtgybuyxajfdjlqwibuztzvroa 33 26 impair- impair- NNS work_xtgybuyxajfdjlqwibuztzvroa 33 27 ment ment NNP work_xtgybuyxajfdjlqwibuztzvroa 33 28 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 33 29 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 33 30 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 33 31 individual individual JJ work_xtgybuyxajfdjlqwibuztzvroa 33 32 V-18 v-18 CD work_xtgybuyxajfdjlqwibuztzvroa 33 33 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 33 34 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 33 35 fig fig NN work_xtgybuyxajfdjlqwibuztzvroa 33 36 . . . work_xtgybuyxajfdjlqwibuztzvroa 34 1 1A 1a LS work_xtgybuyxajfdjlqwibuztzvroa 34 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 34 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 35 1 X x NN work_xtgybuyxajfdjlqwibuztzvroa 35 2 - - NN work_xtgybuyxajfdjlqwibuztzvroa 35 3 chro chro JJ work_xtgybuyxajfdjlqwibuztzvroa 35 4 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 35 5 IQ iq NN work_xtgybuyxajfdjlqwibuztzvroa 35 6 p p NN work_xtgybuyxajfdjlqwibuztzvroa 35 7 70 70 CD work_xtgybuyxajfdjlqwibuztzvroa 35 8 mosome mosome NN work_xtgybuyxajfdjlqwibuztzvroa 35 9 inactivation inactivation NN work_xtgybuyxajfdjlqwibuztzvroa 35 10 in in IN work_xtgybuyxajfdjlqwibuztzvroa 35 11 carrier carrier NN work_xtgybuyxajfdjlqwibuztzvroa 35 12 females female NNS work_xtgybuyxajfdjlqwibuztzvroa 35 13 was be VBD work_xtgybuyxajfdjlqwibuztzvroa 35 14 not not RB work_xtgybuyxajfdjlqwibuztzvroa 35 15 skewed skewed JJ work_xtgybuyxajfdjlqwibuztzvroa 35 16 . . . work_xtgybuyxajfdjlqwibuztzvroa 36 1 In in IN work_xtgybuyxajfdjlqwibuztzvroa 36 2 the the DT work_xtgybuyxajfdjlqwibuztzvroa 36 3 other other JJ work_xtgybuyxajfdjlqwibuztzvroa 36 4 family family NN work_xtgybuyxajfdjlqwibuztzvroa 36 5 presenting present VBG work_xtgybuyxajfdjlqwibuztzvroa 36 6 with with IN work_xtgybuyxajfdjlqwibuztzvroa 36 7 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 36 8 and and CC work_xtgybuyxajfdjlqwibuztzvroa 36 9 microceph- microceph- NNP work_xtgybuyxajfdjlqwibuztzvroa 36 10 aly aly NNP work_xtgybuyxajfdjlqwibuztzvroa 36 11 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 36 12 K9008 K9008 NNP work_xtgybuyxajfdjlqwibuztzvroa 36 13 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 36 14 , , , work_xtgybuyxajfdjlqwibuztzvroa 36 15 we -PRON- PRP work_xtgybuyxajfdjlqwibuztzvroa 36 16 detected detect VBD work_xtgybuyxajfdjlqwibuztzvroa 36 17 a a DT work_xtgybuyxajfdjlqwibuztzvroa 36 18 novel novel NN work_xtgybuyxajfdjlqwibuztzvroa 36 19 AG AG NNP work_xtgybuyxajfdjlqwibuztzvroa 36 20 dinucleotide dinucleotide NN work_xtgybuyxajfdjlqwibuztzvroa 36 21 de- de- XX work_xtgybuyxajfdjlqwibuztzvroa 36 22 letion letion NN work_xtgybuyxajfdjlqwibuztzvroa 36 23 at at IN work_xtgybuyxajfdjlqwibuztzvroa 36 24 the the DT work_xtgybuyxajfdjlqwibuztzvroa 36 25 end end NN work_xtgybuyxajfdjlqwibuztzvroa 36 26 of of IN work_xtgybuyxajfdjlqwibuztzvroa 36 27 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 36 28 4 4 CD work_xtgybuyxajfdjlqwibuztzvroa 36 29 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 36 30 c.575_576delAG c.575_576delAG NNP work_xtgybuyxajfdjlqwibuztzvroa 36 31 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 36 32 , , , work_xtgybuyxajfdjlqwibuztzvroa 36 33 causing cause VBG work_xtgybuyxajfdjlqwibuztzvroa 36 34 a a DT work_xtgybuyxajfdjlqwibuztzvroa 36 35 frameshift frameshift NN work_xtgybuyxajfdjlqwibuztzvroa 36 36 and and CC work_xtgybuyxajfdjlqwibuztzvroa 36 37 introducing introduce VBG work_xtgybuyxajfdjlqwibuztzvroa 36 38 a a DT work_xtgybuyxajfdjlqwibuztzvroa 36 39 new new JJ work_xtgybuyxajfdjlqwibuztzvroa 36 40 stop stop NN work_xtgybuyxajfdjlqwibuztzvroa 36 41 codon codon NN work_xtgybuyxajfdjlqwibuztzvroa 36 42 at at IN work_xtgybuyxajfdjlqwibuztzvroa 36 43 amino amino JJ work_xtgybuyxajfdjlqwibuztzvroa 36 44 acid acid NN work_xtgybuyxajfdjlqwibuztzvroa 36 45 position position NN work_xtgybuyxajfdjlqwibuztzvroa 36 46 198 198 CD work_xtgybuyxajfdjlqwibuztzvroa 36 47 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 36 48 fig fig NN work_xtgybuyxajfdjlqwibuztzvroa 36 49 . . . work_xtgybuyxajfdjlqwibuztzvroa 37 1 1B 1B NNP work_xtgybuyxajfdjlqwibuztzvroa 37 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 37 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 38 1 Neither neither DT work_xtgybuyxajfdjlqwibuztzvroa 38 2 of of IN work_xtgybuyxajfdjlqwibuztzvroa 38 3 these these DT work_xtgybuyxajfdjlqwibuztzvroa 38 4 truncating truncating JJ work_xtgybuyxajfdjlqwibuztzvroa 38 5 alterations alteration NNS work_xtgybuyxajfdjlqwibuztzvroa 38 6 was be VBD work_xtgybuyxajfdjlqwibuztzvroa 38 7 found find VBN work_xtgybuyxajfdjlqwibuztzvroa 38 8 in in IN work_xtgybuyxajfdjlqwibuztzvroa 38 9 200 200 CD work_xtgybuyxajfdjlqwibuztzvroa 38 10 X x NN work_xtgybuyxajfdjlqwibuztzvroa 38 11 chromosomes chromosome NNS work_xtgybuyxajfdjlqwibuztzvroa 38 12 from from IN work_xtgybuyxajfdjlqwibuztzvroa 38 13 un- un- JJ work_xtgybuyxajfdjlqwibuztzvroa 38 14 affected affected JJ work_xtgybuyxajfdjlqwibuztzvroa 38 15 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 38 16 . . . work_xtgybuyxajfdjlqwibuztzvroa 39 1 In in IN work_xtgybuyxajfdjlqwibuztzvroa 39 2 contrast contrast NN work_xtgybuyxajfdjlqwibuztzvroa 39 3 to to IN work_xtgybuyxajfdjlqwibuztzvroa 39 4 the the DT work_xtgybuyxajfdjlqwibuztzvroa 39 5 previously previously RB work_xtgybuyxajfdjlqwibuztzvroa 39 6 found find VBN work_xtgybuyxajfdjlqwibuztzvroa 39 7 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 39 8 in in IN work_xtgybuyxajfdjlqwibuztzvroa 39 9 the the DT work_xtgybuyxajfdjlqwibuztzvroa 39 10 PQBP1 pqbp1 NN work_xtgybuyxajfdjlqwibuztzvroa 39 11 gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 39 12 that that WDT work_xtgybuyxajfdjlqwibuztzvroa 39 13 are be VBP work_xtgybuyxajfdjlqwibuztzvroa 39 14 all all DT work_xtgybuyxajfdjlqwibuztzvroa 39 15 located locate VBN work_xtgybuyxajfdjlqwibuztzvroa 39 16 in in IN work_xtgybuyxajfdjlqwibuztzvroa 39 17 the the DT work_xtgybuyxajfdjlqwibuztzvroa 39 18 middle middle NN work_xtgybuyxajfdjlqwibuztzvroa 39 19 of of IN work_xtgybuyxajfdjlqwibuztzvroa 39 20 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 39 21 4 4 CD work_xtgybuyxajfdjlqwibuztzvroa 39 22 , , , work_xtgybuyxajfdjlqwibuztzvroa 39 23 these these DT work_xtgybuyxajfdjlqwibuztzvroa 39 24 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 39 25 , , , work_xtgybuyxajfdjlqwibuztzvroa 39 26 at at IN work_xtgybuyxajfdjlqwibuztzvroa 39 27 either either CC work_xtgybuyxajfdjlqwibuztzvroa 39 28 the the DT work_xtgybuyxajfdjlqwibuztzvroa 39 29 end end NN work_xtgybuyxajfdjlqwibuztzvroa 39 30 of of IN work_xtgybuyxajfdjlqwibuztzvroa 39 31 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 39 32 4 4 CD work_xtgybuyxajfdjlqwibuztzvroa 39 33 or or CC work_xtgybuyxajfdjlqwibuztzvroa 39 34 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 39 35 5 5 CD work_xtgybuyxajfdjlqwibuztzvroa 39 36 , , , work_xtgybuyxajfdjlqwibuztzvroa 39 37 do do VBP work_xtgybuyxajfdjlqwibuztzvroa 39 38 not not RB work_xtgybuyxajfdjlqwibuztzvroa 39 39 affect affect VB work_xtgybuyxajfdjlqwibuztzvroa 39 40 the the DT work_xtgybuyxajfdjlqwibuztzvroa 39 41 PRD PRD NNP work_xtgybuyxajfdjlqwibuztzvroa 39 42 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 39 43 fig fig NN work_xtgybuyxajfdjlqwibuztzvroa 39 44 . . . work_xtgybuyxajfdjlqwibuztzvroa 40 1 2 2 LS work_xtgybuyxajfdjlqwibuztzvroa 40 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 40 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 41 1 Taking take VBG work_xtgybuyxajfdjlqwibuztzvroa 41 2 into into IN work_xtgybuyxajfdjlqwibuztzvroa 41 3 account account NN work_xtgybuyxajfdjlqwibuztzvroa 41 4 all all DT work_xtgybuyxajfdjlqwibuztzvroa 41 5 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 41 6 in in IN work_xtgybuyxajfdjlqwibuztzvroa 41 7 the the DT work_xtgybuyxajfdjlqwibuztzvroa 41 8 PQBP1 pqbp1 NN work_xtgybuyxajfdjlqwibuztzvroa 41 9 gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 41 10 that that WDT work_xtgybuyxajfdjlqwibuztzvroa 41 11 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 41 12 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 41 13 de- de- RB work_xtgybuyxajfdjlqwibuztzvroa 41 14 scribed scribe VBN work_xtgybuyxajfdjlqwibuztzvroa 41 15 here here RB work_xtgybuyxajfdjlqwibuztzvroa 41 16 and and CC work_xtgybuyxajfdjlqwibuztzvroa 41 17 by by IN work_xtgybuyxajfdjlqwibuztzvroa 41 18 Kalscheuer Kalscheuer NNP work_xtgybuyxajfdjlqwibuztzvroa 41 19 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 41 20 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 41 21 . . . work_xtgybuyxajfdjlqwibuztzvroa 42 1 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 42 2 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 42 3 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 42 4 , , , work_xtgybuyxajfdjlqwibuztzvroa 42 5 two two CD work_xtgybuyxajfdjlqwibuztzvroa 42 6 groups group NNS work_xtgybuyxajfdjlqwibuztzvroa 42 7 of of IN work_xtgybuyxajfdjlqwibuztzvroa 42 8 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 42 9 can can MD work_xtgybuyxajfdjlqwibuztzvroa 42 10 be be VB work_xtgybuyxajfdjlqwibuztzvroa 42 11 classified classify VBN work_xtgybuyxajfdjlqwibuztzvroa 42 12 : : : work_xtgybuyxajfdjlqwibuztzvroa 42 13 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 42 14 1 1 LS work_xtgybuyxajfdjlqwibuztzvroa 42 15 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 42 16 deletions deletion NNS work_xtgybuyxajfdjlqwibuztzvroa 42 17 or or CC work_xtgybuyxajfdjlqwibuztzvroa 42 18 insertions insertion NNS work_xtgybuyxajfdjlqwibuztzvroa 42 19 of of IN work_xtgybuyxajfdjlqwibuztzvroa 42 20 AG AG NNP work_xtgybuyxajfdjlqwibuztzvroa 42 21 nucleotides nucleotide VBZ work_xtgybuyxajfdjlqwibuztzvroa 42 22 affecting affect VBG work_xtgybuyxajfdjlqwibuztzvroa 42 23 the the DT work_xtgybuyxajfdjlqwibuztzvroa 42 24 DR DR NNP work_xtgybuyxajfdjlqwibuztzvroa 42 25 / / SYM work_xtgybuyxajfdjlqwibuztzvroa 42 26 ER ER NNP work_xtgybuyxajfdjlqwibuztzvroa 42 27 repeat repeat NN work_xtgybuyxajfdjlqwibuztzvroa 42 28 in in IN work_xtgybuyxajfdjlqwibuztzvroa 42 29 the the DT work_xtgybuyxajfdjlqwibuztzvroa 42 30 PRD PRD NNP work_xtgybuyxajfdjlqwibuztzvroa 42 31 and and CC work_xtgybuyxajfdjlqwibuztzvroa 42 32 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 42 33 2 2 LS work_xtgybuyxajfdjlqwibuztzvroa 42 34 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 42 35 frameshift frameshift NN work_xtgybuyxajfdjlqwibuztzvroa 42 36 aberrations aberration NNS work_xtgybuyxajfdjlqwibuztzvroa 42 37 leaving leave VBG work_xtgybuyxajfdjlqwibuztzvroa 42 38 the the DT work_xtgybuyxajfdjlqwibuztzvroa 42 39 PRD PRD NNP work_xtgybuyxajfdjlqwibuztzvroa 42 40 undis- undis- NNP work_xtgybuyxajfdjlqwibuztzvroa 42 41 turbed turbed NN work_xtgybuyxajfdjlqwibuztzvroa 42 42 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 42 43 fig fig NN work_xtgybuyxajfdjlqwibuztzvroa 42 44 . . . work_xtgybuyxajfdjlqwibuztzvroa 43 1 2 2 LS work_xtgybuyxajfdjlqwibuztzvroa 43 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 43 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 44 1 However however RB work_xtgybuyxajfdjlqwibuztzvroa 44 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 44 3 the the DT work_xtgybuyxajfdjlqwibuztzvroa 44 4 common common JJ work_xtgybuyxajfdjlqwibuztzvroa 44 5 clinical clinical JJ work_xtgybuyxajfdjlqwibuztzvroa 44 6 manifes- manifes- NN work_xtgybuyxajfdjlqwibuztzvroa 44 7 tations tation NNS work_xtgybuyxajfdjlqwibuztzvroa 44 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 44 9 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 44 10 , , , work_xtgybuyxajfdjlqwibuztzvroa 44 11 microcephaly microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 44 12 , , , work_xtgybuyxajfdjlqwibuztzvroa 44 13 and and CC work_xtgybuyxajfdjlqwibuztzvroa 44 14 short short JJ work_xtgybuyxajfdjlqwibuztzvroa 44 15 stature stature NN work_xtgybuyxajfdjlqwibuztzvroa 44 16 , , , work_xtgybuyxajfdjlqwibuztzvroa 44 17 are be VBP work_xtgybuyxajfdjlqwibuztzvroa 44 18 present present JJ work_xtgybuyxajfdjlqwibuztzvroa 44 19 in in IN work_xtgybuyxajfdjlqwibuztzvroa 44 20 all all DT work_xtgybuyxajfdjlqwibuztzvroa 44 21 families family NNS work_xtgybuyxajfdjlqwibuztzvroa 44 22 . . . work_xtgybuyxajfdjlqwibuztzvroa 45 1 Therefore therefore RB work_xtgybuyxajfdjlqwibuztzvroa 45 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 45 3 it -PRON- PRP work_xtgybuyxajfdjlqwibuztzvroa 45 4 might may MD work_xtgybuyxajfdjlqwibuztzvroa 45 5 be be VB work_xtgybuyxajfdjlqwibuztzvroa 45 6 of of IN work_xtgybuyxajfdjlqwibuztzvroa 45 7 interest interest NN work_xtgybuyxajfdjlqwibuztzvroa 45 8 to to TO work_xtgybuyxajfdjlqwibuztzvroa 45 9 de- de- VB work_xtgybuyxajfdjlqwibuztzvroa 45 10 termine termine VB work_xtgybuyxajfdjlqwibuztzvroa 45 11 whether whether IN work_xtgybuyxajfdjlqwibuztzvroa 45 12 the the DT work_xtgybuyxajfdjlqwibuztzvroa 45 13 PRD PRD NNP work_xtgybuyxajfdjlqwibuztzvroa 45 14 in in IN work_xtgybuyxajfdjlqwibuztzvroa 45 15 the the DT work_xtgybuyxajfdjlqwibuztzvroa 45 16 truncated truncate VBN work_xtgybuyxajfdjlqwibuztzvroa 45 17 proteins protein NNS work_xtgybuyxajfdjlqwibuztzvroa 45 18 from from IN work_xtgybuyxajfdjlqwibuztzvroa 45 19 the the DT work_xtgybuyxajfdjlqwibuztzvroa 45 20 family family NN work_xtgybuyxajfdjlqwibuztzvroa 45 21 described describe VBN work_xtgybuyxajfdjlqwibuztzvroa 45 22 by by IN work_xtgybuyxajfdjlqwibuztzvroa 45 23 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 45 24 and and CC work_xtgybuyxajfdjlqwibuztzvroa 45 25 colleagues colleague NNS work_xtgybuyxajfdjlqwibuztzvroa 45 26 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 45 27 1962 1962 CD work_xtgybuyxajfdjlqwibuztzvroa 45 28 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 45 29 and and CC work_xtgybuyxajfdjlqwibuztzvroa 45 30 the the DT work_xtgybuyxajfdjlqwibuztzvroa 45 31 K9008 K9008 NNP work_xtgybuyxajfdjlqwibuztzvroa 45 32 family family NN work_xtgybuyxajfdjlqwibuztzvroa 45 33 still still RB work_xtgybuyxajfdjlqwibuztzvroa 45 34 interacts interact VBZ work_xtgybuyxajfdjlqwibuztzvroa 45 35 with with IN work_xtgybuyxajfdjlqwibuztzvroa 45 36 BRN2 BRN2 NNP work_xtgybuyxajfdjlqwibuztzvroa 45 37 or or CC work_xtgybuyxajfdjlqwibuztzvroa 45 38 whether whether IN work_xtgybuyxajfdjlqwibuztzvroa 45 39 the the DT work_xtgybuyxajfdjlqwibuztzvroa 45 40 loss loss NN work_xtgybuyxajfdjlqwibuztzvroa 45 41 of of IN work_xtgybuyxajfdjlqwibuztzvroa 45 42 the the DT work_xtgybuyxajfdjlqwibuztzvroa 45 43 last last JJ work_xtgybuyxajfdjlqwibuztzvroa 45 44 67 67 CD work_xtgybuyxajfdjlqwibuztzvroa 45 45 or or CC work_xtgybuyxajfdjlqwibuztzvroa 45 46 40 40 CD work_xtgybuyxajfdjlqwibuztzvroa 45 47 amino amino JJ work_xtgybuyxajfdjlqwibuztzvroa 45 48 acids acid NNS work_xtgybuyxajfdjlqwibuztzvroa 45 49 disturbs disturb VBZ work_xtgybuyxajfdjlqwibuztzvroa 45 50 this this DT work_xtgybuyxajfdjlqwibuztzvroa 45 51 function function NN work_xtgybuyxajfdjlqwibuztzvroa 45 52 . . . work_xtgybuyxajfdjlqwibuztzvroa 46 1 Alternatively alternatively RB work_xtgybuyxajfdjlqwibuztzvroa 46 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 46 3 the the DT work_xtgybuyxajfdjlqwibuztzvroa 46 4 interaction interaction NN work_xtgybuyxajfdjlqwibuztzvroa 46 5 with with IN work_xtgybuyxajfdjlqwibuztzvroa 46 6 other other JJ work_xtgybuyxajfdjlqwibuztzvroa 46 7 , , , work_xtgybuyxajfdjlqwibuztzvroa 46 8 yet yet RB work_xtgybuyxajfdjlqwibuztzvroa 46 9 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 46 10 unknown unknown JJ work_xtgybuyxajfdjlqwibuztzvroa 46 11 proteins protein NNS work_xtgybuyxajfdjlqwibuztzvroa 46 12 might may MD work_xtgybuyxajfdjlqwibuztzvroa 46 13 be be VB work_xtgybuyxajfdjlqwibuztzvroa 46 14 disrupted disrupt VBN work_xtgybuyxajfdjlqwibuztzvroa 46 15 . . . work_xtgybuyxajfdjlqwibuztzvroa 47 1 Advances advance NNS work_xtgybuyxajfdjlqwibuztzvroa 47 2 in in IN work_xtgybuyxajfdjlqwibuztzvroa 47 3 clinical clinical JJ work_xtgybuyxajfdjlqwibuztzvroa 47 4 delineation delineation NN work_xtgybuyxajfdjlqwibuztzvroa 47 5 and and CC work_xtgybuyxajfdjlqwibuztzvroa 47 6 in in IN work_xtgybuyxajfdjlqwibuztzvroa 47 7 molecular molecular JJ work_xtgybuyxajfdjlqwibuztzvroa 47 8 un- un- JJ work_xtgybuyxajfdjlqwibuztzvroa 47 9 Figure figure NN work_xtgybuyxajfdjlqwibuztzvroa 47 10 1 1 CD work_xtgybuyxajfdjlqwibuztzvroa 47 11 Families family NNS work_xtgybuyxajfdjlqwibuztzvroa 47 12 with with IN work_xtgybuyxajfdjlqwibuztzvroa 47 13 novel novel JJ work_xtgybuyxajfdjlqwibuztzvroa 47 14 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 47 15 in in IN work_xtgybuyxajfdjlqwibuztzvroa 47 16 the the DT work_xtgybuyxajfdjlqwibuztzvroa 47 17 PQBP1 PQBP1 NNP work_xtgybuyxajfdjlqwibuztzvroa 47 18 gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 47 19 . . . work_xtgybuyxajfdjlqwibuztzvroa 48 1 A a DT work_xtgybuyxajfdjlqwibuztzvroa 48 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 48 3 Partial partial JJ work_xtgybuyxajfdjlqwibuztzvroa 48 4 pedigree pedigree NN work_xtgybuyxajfdjlqwibuztzvroa 48 5 of of IN work_xtgybuyxajfdjlqwibuztzvroa 48 6 the the DT work_xtgybuyxajfdjlqwibuztzvroa 48 7 family family NN work_xtgybuyxajfdjlqwibuztzvroa 48 8 described describe VBN work_xtgybuyxajfdjlqwibuztzvroa 48 9 by by IN work_xtgybuyxajfdjlqwibuztzvroa 48 10 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 48 11 and and CC work_xtgybuyxajfdjlqwibuztzvroa 48 12 colleagues colleague NNS work_xtgybuyxajfdjlqwibuztzvroa 48 13 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 48 14 1962 1962 CD work_xtgybuyxajfdjlqwibuztzvroa 48 15 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 48 16 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 48 17 family family NN work_xtgybuyxajfdjlqwibuztzvroa 48 18 K8110 K8110 NNP work_xtgybuyxajfdjlqwibuztzvroa 48 19 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 48 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 48 21 with with IN work_xtgybuyxajfdjlqwibuztzvroa 48 22 the the DT work_xtgybuyxajfdjlqwibuztzvroa 48 23 c.641insC c.641insc CD work_xtgybuyxajfdjlqwibuztzvroa 48 24 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 48 25 . . . work_xtgybuyxajfdjlqwibuztzvroa 49 1 Numbering number VBG work_xtgybuyxajfdjlqwibuztzvroa 49 2 of of IN work_xtgybuyxajfdjlqwibuztzvroa 49 3 the the DT work_xtgybuyxajfdjlqwibuztzvroa 49 4 pedigree pedigree NN work_xtgybuyxajfdjlqwibuztzvroa 49 5 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 49 6 consistent consistent JJ work_xtgybuyxajfdjlqwibuztzvroa 49 7 with with IN work_xtgybuyxajfdjlqwibuztzvroa 49 8 that that DT work_xtgybuyxajfdjlqwibuztzvroa 49 9 published publish VBN work_xtgybuyxajfdjlqwibuztzvroa 49 10 elsewhere elsewhere RB work_xtgybuyxajfdjlqwibuztzvroa 49 11 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 49 12 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 49 13 et et FW work_xtgybuyxajfdjlqwibuztzvroa 49 14 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 49 15 . . . work_xtgybuyxajfdjlqwibuztzvroa 50 1 1998 1998 CD work_xtgybuyxajfdjlqwibuztzvroa 50 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 50 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 51 1 The the DT work_xtgybuyxajfdjlqwibuztzvroa 51 2 c.641insC c.641insc CD work_xtgybuyxajfdjlqwibuztzvroa 51 3 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 51 4 , , , work_xtgybuyxajfdjlqwibuztzvroa 51 5 highlighted highlight VBN work_xtgybuyxajfdjlqwibuztzvroa 51 6 and and CC work_xtgybuyxajfdjlqwibuztzvroa 51 7 indicated indicate VBN work_xtgybuyxajfdjlqwibuztzvroa 51 8 by by IN work_xtgybuyxajfdjlqwibuztzvroa 51 9 the the DT work_xtgybuyxajfdjlqwibuztzvroa 51 10 arrow arrow NN work_xtgybuyxajfdjlqwibuztzvroa 51 11 , , , work_xtgybuyxajfdjlqwibuztzvroa 51 12 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 51 13 present present JJ work_xtgybuyxajfdjlqwibuztzvroa 51 14 in in IN work_xtgybuyxajfdjlqwibuztzvroa 51 15 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 51 16 5 5 CD work_xtgybuyxajfdjlqwibuztzvroa 51 17 and and CC work_xtgybuyxajfdjlqwibuztzvroa 51 18 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 51 19 very very RB work_xtgybuyxajfdjlqwibuztzvroa 51 20 close close JJ work_xtgybuyxajfdjlqwibuztzvroa 51 21 to to IN work_xtgybuyxajfdjlqwibuztzvroa 51 22 the the DT work_xtgybuyxajfdjlqwibuztzvroa 51 23 exon exon NN work_xtgybuyxajfdjlqwibuztzvroa 51 24 / / SYM work_xtgybuyxajfdjlqwibuztzvroa 51 25 intron intron NNP work_xtgybuyxajfdjlqwibuztzvroa 51 26 boundary boundary NNP work_xtgybuyxajfdjlqwibuztzvroa 51 27 . . . work_xtgybuyxajfdjlqwibuztzvroa 52 1 The the DT work_xtgybuyxajfdjlqwibuztzvroa 52 2 shaded shaded JJ work_xtgybuyxajfdjlqwibuztzvroa 52 3 region region NN work_xtgybuyxajfdjlqwibuztzvroa 52 4 shows show VBZ work_xtgybuyxajfdjlqwibuztzvroa 52 5 the the DT work_xtgybuyxajfdjlqwibuztzvroa 52 6 intronic intronic JJ work_xtgybuyxajfdjlqwibuztzvroa 52 7 sequence sequence NN work_xtgybuyxajfdjlqwibuztzvroa 52 8 . . . work_xtgybuyxajfdjlqwibuztzvroa 53 1 This this DT work_xtgybuyxajfdjlqwibuztzvroa 53 2 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 53 3 causes cause VBZ work_xtgybuyxajfdjlqwibuztzvroa 53 4 a a DT work_xtgybuyxajfdjlqwibuztzvroa 53 5 frameshift frameshift NN work_xtgybuyxajfdjlqwibuztzvroa 53 6 in in IN work_xtgybuyxajfdjlqwibuztzvroa 53 7 the the DT work_xtgybuyxajfdjlqwibuztzvroa 53 8 C2 c2 NN work_xtgybuyxajfdjlqwibuztzvroa 53 9 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 53 10 , , , work_xtgybuyxajfdjlqwibuztzvroa 53 11 resulting result VBG work_xtgybuyxajfdjlqwibuztzvroa 53 12 in in IN work_xtgybuyxajfdjlqwibuztzvroa 53 13 the the DT work_xtgybuyxajfdjlqwibuztzvroa 53 14 premature premature JJ work_xtgybuyxajfdjlqwibuztzvroa 53 15 truncation truncation NN work_xtgybuyxajfdjlqwibuztzvroa 53 16 of of IN work_xtgybuyxajfdjlqwibuztzvroa 53 17 the the DT work_xtgybuyxajfdjlqwibuztzvroa 53 18 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 53 19 . . . work_xtgybuyxajfdjlqwibuztzvroa 54 1 B B NNP work_xtgybuyxajfdjlqwibuztzvroa 54 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 54 3 Pedigree Pedigree NNP work_xtgybuyxajfdjlqwibuztzvroa 54 4 of of IN work_xtgybuyxajfdjlqwibuztzvroa 54 5 family family NN work_xtgybuyxajfdjlqwibuztzvroa 54 6 K9008 K9008 NNP work_xtgybuyxajfdjlqwibuztzvroa 54 7 , , , work_xtgybuyxajfdjlqwibuztzvroa 54 8 with with IN work_xtgybuyxajfdjlqwibuztzvroa 54 9 the the DT work_xtgybuyxajfdjlqwibuztzvroa 54 10 c.575_576delAG c.575_576delAG NNP work_xtgybuyxajfdjlqwibuztzvroa 54 11 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 54 12 in in IN work_xtgybuyxajfdjlqwibuztzvroa 54 13 the the DT work_xtgybuyxajfdjlqwibuztzvroa 54 14 NLS NLS NNP work_xtgybuyxajfdjlqwibuztzvroa 54 15 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 54 16 nuclear nuclear JJ work_xtgybuyxajfdjlqwibuztzvroa 54 17 localization localization NN work_xtgybuyxajfdjlqwibuztzvroa 54 18 signal signal NN work_xtgybuyxajfdjlqwibuztzvroa 54 19 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 54 20 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 54 21 . . . work_xtgybuyxajfdjlqwibuztzvroa 55 1 This this DT work_xtgybuyxajfdjlqwibuztzvroa 55 2 deletion deletion NN work_xtgybuyxajfdjlqwibuztzvroa 55 3 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 55 4 in in IN work_xtgybuyxajfdjlqwibuztzvroa 55 5 exon exon NNP work_xtgybuyxajfdjlqwibuztzvroa 55 6 4 4 CD work_xtgybuyxajfdjlqwibuztzvroa 55 7 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 55 8 highlighted highlight VBN work_xtgybuyxajfdjlqwibuztzvroa 55 9 in in IN work_xtgybuyxajfdjlqwibuztzvroa 55 10 yellow yellow NN work_xtgybuyxajfdjlqwibuztzvroa 55 11 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 55 12 and and CC work_xtgybuyxajfdjlqwibuztzvroa 55 13 occurs occur VBZ work_xtgybuyxajfdjlqwibuztzvroa 55 14 very very RB work_xtgybuyxajfdjlqwibuztzvroa 55 15 close close RB work_xtgybuyxajfdjlqwibuztzvroa 55 16 to to IN work_xtgybuyxajfdjlqwibuztzvroa 55 17 the the DT work_xtgybuyxajfdjlqwibuztzvroa 55 18 exon exon NN work_xtgybuyxajfdjlqwibuztzvroa 55 19 / / SYM work_xtgybuyxajfdjlqwibuztzvroa 55 20 intron intron NNP work_xtgybuyxajfdjlqwibuztzvroa 55 21 boundary boundary NNP work_xtgybuyxajfdjlqwibuztzvroa 55 22 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 55 23 sequence sequence NN work_xtgybuyxajfdjlqwibuztzvroa 55 24 contributed contribute VBD work_xtgybuyxajfdjlqwibuztzvroa 55 25 from from IN work_xtgybuyxajfdjlqwibuztzvroa 55 26 the the DT work_xtgybuyxajfdjlqwibuztzvroa 55 27 intron intron NN work_xtgybuyxajfdjlqwibuztzvroa 55 28 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 55 29 shaded shaded JJ work_xtgybuyxajfdjlqwibuztzvroa 55 30 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 55 31 . . . work_xtgybuyxajfdjlqwibuztzvroa 56 1 This this DT work_xtgybuyxajfdjlqwibuztzvroa 56 2 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 56 3 causes cause VBZ work_xtgybuyxajfdjlqwibuztzvroa 56 4 a a DT work_xtgybuyxajfdjlqwibuztzvroa 56 5 frameshift frameshift NN work_xtgybuyxajfdjlqwibuztzvroa 56 6 and and CC work_xtgybuyxajfdjlqwibuztzvroa 56 7 results result NNS work_xtgybuyxajfdjlqwibuztzvroa 56 8 in in IN work_xtgybuyxajfdjlqwibuztzvroa 56 9 a a DT work_xtgybuyxajfdjlqwibuztzvroa 56 10 premature premature JJ work_xtgybuyxajfdjlqwibuztzvroa 56 11 truncation truncation NN work_xtgybuyxajfdjlqwibuztzvroa 56 12 of of IN work_xtgybuyxajfdjlqwibuztzvroa 56 13 the the DT work_xtgybuyxajfdjlqwibuztzvroa 56 14 PQBP1 PQBP1 NNP work_xtgybuyxajfdjlqwibuztzvroa 56 15 protein protein NNP work_xtgybuyxajfdjlqwibuztzvroa 56 16 , , , work_xtgybuyxajfdjlqwibuztzvroa 56 17 which which WDT work_xtgybuyxajfdjlqwibuztzvroa 56 18 lacks lack VBZ work_xtgybuyxajfdjlqwibuztzvroa 56 19 the the DT work_xtgybuyxajfdjlqwibuztzvroa 56 20 C2 c2 NN work_xtgybuyxajfdjlqwibuztzvroa 56 21 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 56 22 . . . work_xtgybuyxajfdjlqwibuztzvroa 57 1 Letter letter NN work_xtgybuyxajfdjlqwibuztzvroa 57 2 to to IN work_xtgybuyxajfdjlqwibuztzvroa 57 3 the the DT work_xtgybuyxajfdjlqwibuztzvroa 57 4 Editor Editor NNP work_xtgybuyxajfdjlqwibuztzvroa 57 5 779 779 CD work_xtgybuyxajfdjlqwibuztzvroa 57 6 Figure figure NN work_xtgybuyxajfdjlqwibuztzvroa 57 7 2 2 CD work_xtgybuyxajfdjlqwibuztzvroa 57 8 Truncating truncate VBG work_xtgybuyxajfdjlqwibuztzvroa 57 9 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 57 10 in in IN work_xtgybuyxajfdjlqwibuztzvroa 57 11 the the DT work_xtgybuyxajfdjlqwibuztzvroa 57 12 PQBP1 PQBP1 NNP work_xtgybuyxajfdjlqwibuztzvroa 57 13 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 57 14 . . . work_xtgybuyxajfdjlqwibuztzvroa 58 1 This this DT work_xtgybuyxajfdjlqwibuztzvroa 58 2 figure figure NN work_xtgybuyxajfdjlqwibuztzvroa 58 3 shows show VBZ work_xtgybuyxajfdjlqwibuztzvroa 58 4 the the DT work_xtgybuyxajfdjlqwibuztzvroa 58 5 structure structure NN work_xtgybuyxajfdjlqwibuztzvroa 58 6 of of IN work_xtgybuyxajfdjlqwibuztzvroa 58 7 the the DT work_xtgybuyxajfdjlqwibuztzvroa 58 8 PQBP1 PQBP1 NNP work_xtgybuyxajfdjlqwibuztzvroa 58 9 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 58 10 with with IN work_xtgybuyxajfdjlqwibuztzvroa 58 11 the the DT work_xtgybuyxajfdjlqwibuztzvroa 58 12 WW WW NNP work_xtgybuyxajfdjlqwibuztzvroa 58 13 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 58 14 , , , work_xtgybuyxajfdjlqwibuztzvroa 58 15 the the DT work_xtgybuyxajfdjlqwibuztzvroa 58 16 PRD PRD NNP work_xtgybuyxajfdjlqwibuztzvroa 58 17 with with IN work_xtgybuyxajfdjlqwibuztzvroa 58 18 DR DR NNP work_xtgybuyxajfdjlqwibuztzvroa 58 19 / / SYM work_xtgybuyxajfdjlqwibuztzvroa 58 20 ER ER NNP work_xtgybuyxajfdjlqwibuztzvroa 58 21 repeats repeat NNS work_xtgybuyxajfdjlqwibuztzvroa 58 22 , , , work_xtgybuyxajfdjlqwibuztzvroa 58 23 the the DT work_xtgybuyxajfdjlqwibuztzvroa 58 24 NLS NLS NNP work_xtgybuyxajfdjlqwibuztzvroa 58 25 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 58 26 , , , work_xtgybuyxajfdjlqwibuztzvroa 58 27 and and CC work_xtgybuyxajfdjlqwibuztzvroa 58 28 the the DT work_xtgybuyxajfdjlqwibuztzvroa 58 29 C2 c2 NN work_xtgybuyxajfdjlqwibuztzvroa 58 30 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 58 31 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 58 32 modified modify VBN work_xtgybuyxajfdjlqwibuztzvroa 58 33 from from IN work_xtgybuyxajfdjlqwibuztzvroa 58 34 Waragai Waragai NNP work_xtgybuyxajfdjlqwibuztzvroa 58 35 et et FW work_xtgybuyxajfdjlqwibuztzvroa 58 36 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 58 37 . . . work_xtgybuyxajfdjlqwibuztzvroa 59 1 1999 1999 CD work_xtgybuyxajfdjlqwibuztzvroa 59 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 59 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 60 1 The the DT work_xtgybuyxajfdjlqwibuztzvroa 60 2 novel novel JJ work_xtgybuyxajfdjlqwibuztzvroa 60 3 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 60 4 reported report VBN work_xtgybuyxajfdjlqwibuztzvroa 60 5 in in IN work_xtgybuyxajfdjlqwibuztzvroa 60 6 this this DT work_xtgybuyxajfdjlqwibuztzvroa 60 7 study study NN work_xtgybuyxajfdjlqwibuztzvroa 60 8 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 60 9 c.575_576delAG c.575_576delAG NNP work_xtgybuyxajfdjlqwibuztzvroa 60 10 and and CC work_xtgybuyxajfdjlqwibuztzvroa 60 11 c.641insC c.641insC NNP work_xtgybuyxajfdjlqwibuztzvroa 60 12 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 60 13 are be VBP work_xtgybuyxajfdjlqwibuztzvroa 60 14 in in IN work_xtgybuyxajfdjlqwibuztzvroa 60 15 boldface boldface NN work_xtgybuyxajfdjlqwibuztzvroa 60 16 . . . work_xtgybuyxajfdjlqwibuztzvroa 61 1 The the DT work_xtgybuyxajfdjlqwibuztzvroa 61 2 three three CD work_xtgybuyxajfdjlqwibuztzvroa 61 3 different different JJ work_xtgybuyxajfdjlqwibuztzvroa 61 4 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 61 5 in in IN work_xtgybuyxajfdjlqwibuztzvroa 61 6 the the DT work_xtgybuyxajfdjlqwibuztzvroa 61 7 DR DR NNP work_xtgybuyxajfdjlqwibuztzvroa 61 8 / / SYM work_xtgybuyxajfdjlqwibuztzvroa 61 9 ER ER NNP work_xtgybuyxajfdjlqwibuztzvroa 61 10 domain domain NN work_xtgybuyxajfdjlqwibuztzvroa 61 11 reported report VBN work_xtgybuyxajfdjlqwibuztzvroa 61 12 by by IN work_xtgybuyxajfdjlqwibuztzvroa 61 13 Kalscheuer Kalscheuer NNP work_xtgybuyxajfdjlqwibuztzvroa 61 14 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 61 15 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 61 16 . . . work_xtgybuyxajfdjlqwibuztzvroa 62 1 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 62 2 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 62 3 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 62 4 are be VBP work_xtgybuyxajfdjlqwibuztzvroa 62 5 in in IN work_xtgybuyxajfdjlqwibuztzvroa 62 6 italics italic NNS work_xtgybuyxajfdjlqwibuztzvroa 62 7 . . . work_xtgybuyxajfdjlqwibuztzvroa 63 1 derstandings derstanding NNS work_xtgybuyxajfdjlqwibuztzvroa 63 2 of of IN work_xtgybuyxajfdjlqwibuztzvroa 63 3 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 63 4 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 63 5 now now RB work_xtgybuyxajfdjlqwibuztzvroa 63 6 identified identify VBN work_xtgybuyxajfdjlqwibuztzvroa 63 7 120 120 CD work_xtgybuyxajfdjlqwibuztzvroa 63 8 syn- syn- JJ work_xtgybuyxajfdjlqwibuztzvroa 63 9 dromic dromic JJ work_xtgybuyxajfdjlqwibuztzvroa 63 10 forms form NNS work_xtgybuyxajfdjlqwibuztzvroa 63 11 of of IN work_xtgybuyxajfdjlqwibuztzvroa 63 12 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 63 13 and and CC work_xtgybuyxajfdjlqwibuztzvroa 63 14 81 81 CD work_xtgybuyxajfdjlqwibuztzvroa 63 15 families family NNS work_xtgybuyxajfdjlqwibuztzvroa 63 16 with with IN work_xtgybuyxajfdjlqwibuztzvroa 63 17 nonsyn- nonsyn- JJ work_xtgybuyxajfdjlqwibuztzvroa 63 18 dromic dromic NNP work_xtgybuyxajfdjlqwibuztzvroa 63 19 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 63 20 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 63 21 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 63 22 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 63 23 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 63 24 . . . work_xtgybuyxajfdjlqwibuztzvroa 64 1 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 64 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 64 3 . . . work_xtgybuyxajfdjlqwibuztzvroa 65 1 To to IN work_xtgybuyxajfdjlqwibuztzvroa 65 2 date date NN work_xtgybuyxajfdjlqwibuztzvroa 65 3 , , , work_xtgybuyxajfdjlqwibuztzvroa 65 4 mu- mu- JJ work_xtgybuyxajfdjlqwibuztzvroa 65 5 tations tation NNS work_xtgybuyxajfdjlqwibuztzvroa 65 6 in in IN work_xtgybuyxajfdjlqwibuztzvroa 65 7 47 47 CD work_xtgybuyxajfdjlqwibuztzvroa 65 8 genes gene NNS work_xtgybuyxajfdjlqwibuztzvroa 65 9 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 65 10 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 65 11 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 65 12 to to IN work_xtgybuyxajfdjlqwibuztzvroa 65 13 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 65 14 . . . work_xtgybuyxajfdjlqwibuztzvroa 66 1 Of of IN work_xtgybuyxajfdjlqwibuztzvroa 66 2 these these DT work_xtgybuyxajfdjlqwibuztzvroa 66 3 47 47 CD work_xtgybuyxajfdjlqwibuztzvroa 66 4 genes gene NNS work_xtgybuyxajfdjlqwibuztzvroa 66 5 , , , work_xtgybuyxajfdjlqwibuztzvroa 66 6 29 29 CD work_xtgybuyxajfdjlqwibuztzvroa 66 7 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 66 8 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 66 9 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 66 10 exclusively exclusively RB work_xtgybuyxajfdjlqwibuztzvroa 66 11 to to IN work_xtgybuyxajfdjlqwibuztzvroa 66 12 syndromic syndromic JJ work_xtgybuyxajfdjlqwibuztzvroa 66 13 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 66 14 , , , work_xtgybuyxajfdjlqwibuztzvroa 66 15 11 11 CD work_xtgybuyxajfdjlqwibuztzvroa 66 16 exclusively exclusively RB work_xtgybuyxajfdjlqwibuztzvroa 66 17 to to IN work_xtgybuyxajfdjlqwibuztzvroa 66 18 nonsyndromic nonsyndromic JJ work_xtgybuyxajfdjlqwibuztzvroa 66 19 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 66 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 66 21 and and CC work_xtgybuyxajfdjlqwibuztzvroa 66 22 7 7 CD work_xtgybuyxajfdjlqwibuztzvroa 66 23 to to IN work_xtgybuyxajfdjlqwibuztzvroa 66 24 both both DT work_xtgybuyxajfdjlqwibuztzvroa 66 25 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 66 26 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 66 27 and and CC work_xtgybuyxajfdjlqwibuztzvroa 66 28 Schwartz Schwartz NNP work_xtgybuyxajfdjlqwibuztzvroa 66 29 2002 2002 CD work_xtgybuyxajfdjlqwibuztzvroa 66 30 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 66 31 . . . work_xtgybuyxajfdjlqwibuztzvroa 67 1 With with IN work_xtgybuyxajfdjlqwibuztzvroa 67 2 the the DT work_xtgybuyxajfdjlqwibuztzvroa 67 3 exception exception NN work_xtgybuyxajfdjlqwibuztzvroa 67 4 of of IN work_xtgybuyxajfdjlqwibuztzvroa 67 5 Allan Allan NNP work_xtgybuyxajfdjlqwibuztzvroa 67 6 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 67 7 Herndon Herndon NNP work_xtgybuyxajfdjlqwibuztzvroa 67 8 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 67 9 [ [ -LRB- work_xtgybuyxajfdjlqwibuztzvroa 67 10 MIM MIM NNP work_xtgybuyxajfdjlqwibuztzvroa 67 11 309600 309600 CD work_xtgybuyxajfdjlqwibuztzvroa 67 12 ] ] -RRB- work_xtgybuyxajfdjlqwibuztzvroa 67 13 , , , work_xtgybuyxajfdjlqwibuztzvroa 67 14 all all DT work_xtgybuyxajfdjlqwibuztzvroa 67 15 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 67 16 syndromes syndrome VBZ work_xtgybuyxajfdjlqwibuztzvroa 67 17 reported report VBN work_xtgybuyxajfdjlqwibuztzvroa 67 18 prior prior RB work_xtgybuyxajfdjlqwibuztzvroa 67 19 to to IN work_xtgybuyxajfdjlqwibuztzvroa 67 20 the the DT work_xtgybuyxajfdjlqwibuztzvroa 67 21 discovery discovery NN work_xtgybuyxajfdjlqwibuztzvroa 67 22 of of IN work_xtgybuyxajfdjlqwibuztzvroa 67 23 the the DT work_xtgybuyxajfdjlqwibuztzvroa 67 24 fragile fragile JJ work_xtgybuyxajfdjlqwibuztzvroa 67 25 X x NN work_xtgybuyxajfdjlqwibuztzvroa 67 26 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 67 27 [ [ -LRB- work_xtgybuyxajfdjlqwibuztzvroa 67 28 MIM MIM NNP work_xtgybuyxajfdjlqwibuztzvroa 67 29 309550 309550 CD work_xtgybuyxajfdjlqwibuztzvroa 67 30 ] ] -RRB- work_xtgybuyxajfdjlqwibuztzvroa 67 31 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 67 32 now now RB work_xtgybuyxajfdjlqwibuztzvroa 67 33 been be VBN work_xtgybuyxajfdjlqwibuztzvroa 67 34 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 67 35 to to IN work_xtgybuyxajfdjlqwibuztzvroa 67 36 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 67 37 of of IN work_xtgybuyxajfdjlqwibuztzvroa 67 38 a a DT work_xtgybuyxajfdjlqwibuztzvroa 67 39 specific specific JJ work_xtgybuyxajfdjlqwibuztzvroa 67 40 gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 67 41 . . . work_xtgybuyxajfdjlqwibuztzvroa 68 1 Identification identification NN work_xtgybuyxajfdjlqwibuztzvroa 68 2 of of IN work_xtgybuyxajfdjlqwibuztzvroa 68 3 a a DT work_xtgybuyxajfdjlqwibuztzvroa 68 4 PQBP1 pqbp1 NN work_xtgybuyxajfdjlqwibuztzvroa 68 5 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 68 6 in in IN work_xtgybuyxajfdjlqwibuztzvroa 68 7 Renpenning renpenne VBG work_xtgybuyxajfdjlqwibuztzvroa 68 8 syn- syn- JJ work_xtgybuyxajfdjlqwibuztzvroa 68 9 drome drome NN work_xtgybuyxajfdjlqwibuztzvroa 68 10 and and CC work_xtgybuyxajfdjlqwibuztzvroa 68 11 other other JJ work_xtgybuyxajfdjlqwibuztzvroa 68 12 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 68 13 syndromes syndrome VBZ work_xtgybuyxajfdjlqwibuztzvroa 68 14 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 68 15 Kalscheuer Kalscheuer NNP work_xtgybuyxajfdjlqwibuztzvroa 68 16 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 68 17 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 68 18 . . . work_xtgybuyxajfdjlqwibuztzvroa 69 1 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 69 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 69 3 exemplifies exemplify VBZ work_xtgybuyxajfdjlqwibuztzvroa 69 4 the the DT work_xtgybuyxajfdjlqwibuztzvroa 69 5 lumping lumping NN work_xtgybuyxajfdjlqwibuztzvroa 69 6 of of IN work_xtgybuyxajfdjlqwibuztzvroa 69 7 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 69 8 syndromes syndrome VBZ work_xtgybuyxajfdjlqwibuztzvroa 69 9 that that DT work_xtgybuyxajfdjlqwibuztzvroa 69 10 has have VBZ work_xtgybuyxajfdjlqwibuztzvroa 69 11 become become VBN work_xtgybuyxajfdjlqwibuztzvroa 69 12 justified justified JJ work_xtgybuyxajfdjlqwibuztzvroa 69 13 on on IN work_xtgybuyxajfdjlqwibuztzvroa 69 14 the the DT work_xtgybuyxajfdjlqwibuztzvroa 69 15 basis basis NN work_xtgybuyxajfdjlqwibuztzvroa 69 16 of of IN work_xtgybuyxajfdjlqwibuztzvroa 69 17 molecular molecular JJ work_xtgybuyxajfdjlqwibuztzvroa 69 18 studies study NNS work_xtgybuyxajfdjlqwibuztzvroa 69 19 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 69 20 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 69 21 2000 2000 CD work_xtgybuyxajfdjlqwibuztzvroa 69 22 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 69 23 . . . work_xtgybuyxajfdjlqwibuztzvroa 70 1 As as IN work_xtgybuyxajfdjlqwibuztzvroa 70 2 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 70 3 , , , work_xtgybuyxajfdjlqwibuztzvroa 70 4 microcephaly microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 70 5 , , , work_xtgybuyxajfdjlqwibuztzvroa 70 6 and and CC work_xtgybuyxajfdjlqwibuztzvroa 70 7 short short JJ work_xtgybuyxajfdjlqwibuztzvroa 70 8 stat- stat- NN work_xtgybuyxajfdjlqwibuztzvroa 70 9 ure ure NN work_xtgybuyxajfdjlqwibuztzvroa 70 10 seem seem VBP work_xtgybuyxajfdjlqwibuztzvroa 70 11 to to TO work_xtgybuyxajfdjlqwibuztzvroa 70 12 be be VB work_xtgybuyxajfdjlqwibuztzvroa 70 13 consistent consistent JJ work_xtgybuyxajfdjlqwibuztzvroa 70 14 findings finding NNS work_xtgybuyxajfdjlqwibuztzvroa 70 15 among among IN work_xtgybuyxajfdjlqwibuztzvroa 70 16 individuals individual NNS work_xtgybuyxajfdjlqwibuztzvroa 70 17 with with IN work_xtgybuyxajfdjlqwibuztzvroa 70 18 PQBP1 pqbp1 NN work_xtgybuyxajfdjlqwibuztzvroa 70 19 mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 70 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 70 21 patients patient NNS work_xtgybuyxajfdjlqwibuztzvroa 70 22 with with IN work_xtgybuyxajfdjlqwibuztzvroa 70 23 these these DT work_xtgybuyxajfdjlqwibuztzvroa 70 24 findings finding NNS work_xtgybuyxajfdjlqwibuztzvroa 70 25 should should MD work_xtgybuyxajfdjlqwibuztzvroa 70 26 be be VB work_xtgybuyxajfdjlqwibuztzvroa 70 27 included include VBN work_xtgybuyxajfdjlqwibuztzvroa 70 28 in in IN work_xtgybuyxajfdjlqwibuztzvroa 70 29 any any DT work_xtgybuyxajfdjlqwibuztzvroa 70 30 testing testing NN work_xtgybuyxajfdjlqwibuztzvroa 70 31 scheme scheme NN work_xtgybuyxajfdjlqwibuztzvroa 70 32 . . . work_xtgybuyxajfdjlqwibuztzvroa 71 1 In in IN work_xtgybuyxajfdjlqwibuztzvroa 71 2 a a DT work_xtgybuyxajfdjlqwibuztzvroa 71 3 South South NNP work_xtgybuyxajfdjlqwibuztzvroa 71 4 Carolina Carolina NNP work_xtgybuyxajfdjlqwibuztzvroa 71 5 study study NN work_xtgybuyxajfdjlqwibuztzvroa 71 6 of of IN work_xtgybuyxajfdjlqwibuztzvroa 71 7 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 71 8 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 71 9 , , , work_xtgybuyxajfdjlqwibuztzvroa 71 10 among among IN work_xtgybuyxajfdjlqwibuztzvroa 71 11 4,008 4,008 CD work_xtgybuyxajfdjlqwibuztzvroa 71 12 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 71 13 with with IN work_xtgybuyxajfdjlqwibuztzvroa 71 14 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 71 15 of of IN work_xtgybuyxajfdjlqwibuztzvroa 71 16 unknown unknown JJ work_xtgybuyxajfdjlqwibuztzvroa 71 17 cause cause NN work_xtgybuyxajfdjlqwibuztzvroa 71 18 , , , work_xtgybuyxajfdjlqwibuztzvroa 71 19 486 486 CD work_xtgybuyxajfdjlqwibuztzvroa 71 20 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 71 21 12 12 CD work_xtgybuyxajfdjlqwibuztzvroa 71 22 % % NN work_xtgybuyxajfdjlqwibuztzvroa 71 23 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 71 24 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 71 25 microcephaly microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 71 26 , , , work_xtgybuyxajfdjlqwibuztzvroa 71 27 350 350 CD work_xtgybuyxajfdjlqwibuztzvroa 71 28 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 71 29 9 9 CD work_xtgybuyxajfdjlqwibuztzvroa 71 30 % % NN work_xtgybuyxajfdjlqwibuztzvroa 71 31 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 71 32 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 71 33 short short JJ work_xtgybuyxajfdjlqwibuztzvroa 71 34 stature stature NN work_xtgybuyxajfdjlqwibuztzvroa 71 35 , , , work_xtgybuyxajfdjlqwibuztzvroa 71 36 and and CC work_xtgybuyxajfdjlqwibuztzvroa 71 37 128 128 CD work_xtgybuyxajfdjlqwibuztzvroa 71 38 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 71 39 3 3 CD work_xtgybuyxajfdjlqwibuztzvroa 71 40 % % NN work_xtgybuyxajfdjlqwibuztzvroa 71 41 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 71 42 have have VBP work_xtgybuyxajfdjlqwibuztzvroa 71 43 both both DT work_xtgybuyxajfdjlqwibuztzvroa 71 44 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 71 45 R.E.S. R.E.S. NNP work_xtgybuyxajfdjlqwibuztzvroa 71 46 , , , work_xtgybuyxajfdjlqwibuztzvroa 71 47 unpublished unpublished JJ work_xtgybuyxajfdjlqwibuztzvroa 71 48 data datum NNS work_xtgybuyxajfdjlqwibuztzvroa 71 49 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 71 50 . . . work_xtgybuyxajfdjlqwibuztzvroa 72 1 Hence hence RB work_xtgybuyxajfdjlqwibuztzvroa 72 2 , , , work_xtgybuyxajfdjlqwibuztzvroa 72 3 mi- mi- NNP work_xtgybuyxajfdjlqwibuztzvroa 72 4 crocephaly crocephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 72 5 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 72 6 the the DT work_xtgybuyxajfdjlqwibuztzvroa 72 7 most most RBS work_xtgybuyxajfdjlqwibuztzvroa 72 8 common common JJ work_xtgybuyxajfdjlqwibuztzvroa 72 9 physical physical JJ work_xtgybuyxajfdjlqwibuztzvroa 72 10 finding finding NN work_xtgybuyxajfdjlqwibuztzvroa 72 11 among among IN work_xtgybuyxajfdjlqwibuztzvroa 72 12 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 72 13 with with IN work_xtgybuyxajfdjlqwibuztzvroa 72 14 MR MR NNP work_xtgybuyxajfdjlqwibuztzvroa 72 15 of of IN work_xtgybuyxajfdjlqwibuztzvroa 72 16 unknown unknown JJ work_xtgybuyxajfdjlqwibuztzvroa 72 17 cause cause NN work_xtgybuyxajfdjlqwibuztzvroa 72 18 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 72 19 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 72 20 et et FW work_xtgybuyxajfdjlqwibuztzvroa 72 21 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 72 22 . . . work_xtgybuyxajfdjlqwibuztzvroa 73 1 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 73 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 73 3 and and CC work_xtgybuyxajfdjlqwibuztzvroa 73 4 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 73 5 a a DT work_xtgybuyxajfdjlqwibuztzvroa 73 6 reliably reliably RB work_xtgybuyxajfdjlqwibuztzvroa 73 7 ascertained ascertained JJ work_xtgybuyxajfdjlqwibuztzvroa 73 8 finding finding NN work_xtgybuyxajfdjlqwibuztzvroa 73 9 that that WDT work_xtgybuyxajfdjlqwibuztzvroa 73 10 may may MD work_xtgybuyxajfdjlqwibuztzvroa 73 11 be be VB work_xtgybuyxajfdjlqwibuztzvroa 73 12 useful useful JJ work_xtgybuyxajfdjlqwibuztzvroa 73 13 in in IN work_xtgybuyxajfdjlqwibuztzvroa 73 14 the the DT work_xtgybuyxajfdjlqwibuztzvroa 73 15 selection selection NN work_xtgybuyxajfdjlqwibuztzvroa 73 16 of of IN work_xtgybuyxajfdjlqwibuztzvroa 73 17 cases case NNS work_xtgybuyxajfdjlqwibuztzvroa 73 18 for for IN work_xtgybuyxajfdjlqwibuztzvroa 73 19 PQBP1 PQBP1 NNP work_xtgybuyxajfdjlqwibuztzvroa 73 20 mutation mutation NN work_xtgybuyxajfdjlqwibuztzvroa 73 21 testing testing NN work_xtgybuyxajfdjlqwibuztzvroa 73 22 . . . work_xtgybuyxajfdjlqwibuztzvroa 74 1 Acknowledgments acknowledgment NNS work_xtgybuyxajfdjlqwibuztzvroa 74 2 The the DT work_xtgybuyxajfdjlqwibuztzvroa 74 3 authors author NNS work_xtgybuyxajfdjlqwibuztzvroa 74 4 express express VBP work_xtgybuyxajfdjlqwibuztzvroa 74 5 their -PRON- PRP$ work_xtgybuyxajfdjlqwibuztzvroa 74 6 gratitude gratitude NN work_xtgybuyxajfdjlqwibuztzvroa 74 7 to to IN work_xtgybuyxajfdjlqwibuztzvroa 74 8 the the DT work_xtgybuyxajfdjlqwibuztzvroa 74 9 families family NNS work_xtgybuyxajfdjlqwibuztzvroa 74 10 involved involve VBN work_xtgybuyxajfdjlqwibuztzvroa 74 11 in in IN work_xtgybuyxajfdjlqwibuztzvroa 74 12 this this DT work_xtgybuyxajfdjlqwibuztzvroa 74 13 research research NN work_xtgybuyxajfdjlqwibuztzvroa 74 14 and and CC work_xtgybuyxajfdjlqwibuztzvroa 74 15 to to IN work_xtgybuyxajfdjlqwibuztzvroa 74 16 Julianne Julianne NNP work_xtgybuyxajfdjlqwibuztzvroa 74 17 Collins Collins NNP work_xtgybuyxajfdjlqwibuztzvroa 74 18 , , , work_xtgybuyxajfdjlqwibuztzvroa 74 19 Ph.D. ph.d. NN work_xtgybuyxajfdjlqwibuztzvroa 74 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 74 21 Sharon Sharon NNP work_xtgybuyxajfdjlqwibuztzvroa 74 22 Card- Card- NNP work_xtgybuyxajfdjlqwibuztzvroa 74 23 well well RB work_xtgybuyxajfdjlqwibuztzvroa 74 24 , , , work_xtgybuyxajfdjlqwibuztzvroa 74 25 Celeste Celeste NNP work_xtgybuyxajfdjlqwibuztzvroa 74 26 Krauss Krauss NNP work_xtgybuyxajfdjlqwibuztzvroa 74 27 , , , work_xtgybuyxajfdjlqwibuztzvroa 74 28 M.D. M.D. NNP work_xtgybuyxajfdjlqwibuztzvroa 74 29 , , , work_xtgybuyxajfdjlqwibuztzvroa 74 30 Martha Martha NNP work_xtgybuyxajfdjlqwibuztzvroa 74 31 MacMillin MacMillin NNP work_xtgybuyxajfdjlqwibuztzvroa 74 32 , , , work_xtgybuyxajfdjlqwibuztzvroa 74 33 and and CC work_xtgybuyxajfdjlqwibuztzvroa 74 34 Lynda Lynda NNP work_xtgybuyxajfdjlqwibuztzvroa 74 35 Holloway Holloway NNP work_xtgybuyxajfdjlqwibuztzvroa 74 36 for for IN work_xtgybuyxajfdjlqwibuztzvroa 74 37 clinical clinical JJ work_xtgybuyxajfdjlqwibuztzvroa 74 38 information information NN work_xtgybuyxajfdjlqwibuztzvroa 74 39 and and CC work_xtgybuyxajfdjlqwibuztzvroa 74 40 assistance assistance NN work_xtgybuyxajfdjlqwibuztzvroa 74 41 . . . work_xtgybuyxajfdjlqwibuztzvroa 75 1 This this DT work_xtgybuyxajfdjlqwibuztzvroa 75 2 work work NN work_xtgybuyxajfdjlqwibuztzvroa 75 3 was be VBD work_xtgybuyxajfdjlqwibuztzvroa 75 4 supported support VBN work_xtgybuyxajfdjlqwibuztzvroa 75 5 by by IN work_xtgybuyxajfdjlqwibuztzvroa 75 6 the the DT work_xtgybuyxajfdjlqwibuztzvroa 75 7 German German NNP work_xtgybuyxajfdjlqwibuztzvroa 75 8 Ministry Ministry NNP work_xtgybuyxajfdjlqwibuztzvroa 75 9 for for IN work_xtgybuyxajfdjlqwibuztzvroa 75 10 Research Research NNP work_xtgybuyxajfdjlqwibuztzvroa 75 11 and and CC work_xtgybuyxajfdjlqwibuztzvroa 75 12 Ed- ed- CC work_xtgybuyxajfdjlqwibuztzvroa 75 13 ucation ucation NN work_xtgybuyxajfdjlqwibuztzvroa 75 14 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 75 15 BMBF BMBF NNP work_xtgybuyxajfdjlqwibuztzvroa 75 16 , , , work_xtgybuyxajfdjlqwibuztzvroa 75 17 01KW9974 01kw9974 CD work_xtgybuyxajfdjlqwibuztzvroa 75 18 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 75 19 , , , work_xtgybuyxajfdjlqwibuztzvroa 75 20 the the DT work_xtgybuyxajfdjlqwibuztzvroa 75 21 European European NNP work_xtgybuyxajfdjlqwibuztzvroa 75 22 Community Community NNP work_xtgybuyxajfdjlqwibuztzvroa 75 23 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 75 24 QLG2-CT-1999 QLG2-CT-1999 NNP work_xtgybuyxajfdjlqwibuztzvroa 75 25 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 75 26 00791 00791 CD work_xtgybuyxajfdjlqwibuztzvroa 75 27 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 75 28 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 75 29 A.M. A.M. NNP work_xtgybuyxajfdjlqwibuztzvroa 75 30 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 75 31 , , , work_xtgybuyxajfdjlqwibuztzvroa 75 32 grants grant NNS work_xtgybuyxajfdjlqwibuztzvroa 75 33 from from IN work_xtgybuyxajfdjlqwibuztzvroa 75 34 the the DT work_xtgybuyxajfdjlqwibuztzvroa 75 35 National National NNP work_xtgybuyxajfdjlqwibuztzvroa 75 36 In- In- NNP work_xtgybuyxajfdjlqwibuztzvroa 75 37 stitutes stitute NNS work_xtgybuyxajfdjlqwibuztzvroa 75 38 of of IN work_xtgybuyxajfdjlqwibuztzvroa 75 39 Health Health NNP work_xtgybuyxajfdjlqwibuztzvroa 75 40 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 75 41 HD26208 HD26208 NNP work_xtgybuyxajfdjlqwibuztzvroa 75 42 [ [ -LRB- work_xtgybuyxajfdjlqwibuztzvroa 75 43 C.E.S. C.E.S. NNP work_xtgybuyxajfdjlqwibuztzvroa 75 44 ] ] -RRB- work_xtgybuyxajfdjlqwibuztzvroa 76 1 and and CC work_xtgybuyxajfdjlqwibuztzvroa 76 2 MH57840 MH57840 NNP work_xtgybuyxajfdjlqwibuztzvroa 76 3 [ [ -LRB- work_xtgybuyxajfdjlqwibuztzvroa 76 4 R.E.S. R.E.S. NNP work_xtgybuyxajfdjlqwibuztzvroa 77 1 ] ] -RRB- work_xtgybuyxajfdjlqwibuztzvroa 77 2 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 77 3 , , , work_xtgybuyxajfdjlqwibuztzvroa 77 4 a a DT work_xtgybuyxajfdjlqwibuztzvroa 77 5 grant grant NN work_xtgybuyxajfdjlqwibuztzvroa 77 6 from from IN work_xtgybuyxajfdjlqwibuztzvroa 77 7 the the DT work_xtgybuyxajfdjlqwibuztzvroa 77 8 Belgian Belgian NNP work_xtgybuyxajfdjlqwibuztzvroa 77 9 National National NNP work_xtgybuyxajfdjlqwibuztzvroa 77 10 Fund Fund NNP work_xtgybuyxajfdjlqwibuztzvroa 77 11 for for IN work_xtgybuyxajfdjlqwibuztzvroa 77 12 Scientific Scientific NNP work_xtgybuyxajfdjlqwibuztzvroa 77 13 Re- Re- NNP work_xtgybuyxajfdjlqwibuztzvroa 77 14 search search NN work_xtgybuyxajfdjlqwibuztzvroa 77 15 — — : work_xtgybuyxajfdjlqwibuztzvroa 77 16 Flanders flander NNS work_xtgybuyxajfdjlqwibuztzvroa 77 17 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 77 18 FWO FWO NNP work_xtgybuyxajfdjlqwibuztzvroa 77 19 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 77 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 77 21 and and CC work_xtgybuyxajfdjlqwibuztzvroa 77 22 the the DT work_xtgybuyxajfdjlqwibuztzvroa 77 23 Interuniversity Interuniversity NNP work_xtgybuyxajfdjlqwibuztzvroa 77 24 Attraction Attraction NNP work_xtgybuyxajfdjlqwibuztzvroa 77 25 Poles Poles NNPS work_xtgybuyxajfdjlqwibuztzvroa 77 26 Program Program NNP work_xtgybuyxajfdjlqwibuztzvroa 77 27 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 77 28 IUAP IUAP NNP work_xtgybuyxajfdjlqwibuztzvroa 77 29 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 77 30 V V NNP work_xtgybuyxajfdjlqwibuztzvroa 77 31 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 77 32 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 77 33 R.F.K. R.F.K. NNP work_xtgybuyxajfdjlqwibuztzvroa 77 34 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 77 35 . . . work_xtgybuyxajfdjlqwibuztzvroa 78 1 This this DT work_xtgybuyxajfdjlqwibuztzvroa 78 2 study study NN work_xtgybuyxajfdjlqwibuztzvroa 78 3 is be VBZ work_xtgybuyxajfdjlqwibuztzvroa 78 4 dedicated dedicated JJ work_xtgybuyxajfdjlqwibuztzvroa 78 5 to to IN work_xtgybuyxajfdjlqwibuztzvroa 78 6 the the DT work_xtgybuyxajfdjlqwibuztzvroa 78 7 memory memory NN work_xtgybuyxajfdjlqwibuztzvroa 78 8 of of IN work_xtgybuyxajfdjlqwibuztzvroa 78 9 Ethan Ethan NNP work_xtgybuyxajfdjlqwibuztzvroa 78 10 Francis Francis NNP work_xtgybuyxajfdjlqwibuztzvroa 78 11 Schwartz Schwartz NNP work_xtgybuyxajfdjlqwibuztzvroa 78 12 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 78 13 1996–1998 1996–1998 CD work_xtgybuyxajfdjlqwibuztzvroa 78 14 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 78 15 . . . work_xtgybuyxajfdjlqwibuztzvroa 79 1 CLAUS CLAUS NNP work_xtgybuyxajfdjlqwibuztzvroa 79 2 LENSKI,1 lenski,1 NN work_xtgybuyxajfdjlqwibuztzvroa 79 3 FATIMA FATIMA NNP work_xtgybuyxajfdjlqwibuztzvroa 79 4 ABIDI,2 abidi,2 NN work_xtgybuyxajfdjlqwibuztzvroa 79 5 ALFONS alfons JJ work_xtgybuyxajfdjlqwibuztzvroa 79 6 MEINDL,1 MEINDL,1 NNP work_xtgybuyxajfdjlqwibuztzvroa 79 7 ALICE ALICE NNP work_xtgybuyxajfdjlqwibuztzvroa 79 8 GIBSON,3 GIBSON,3 NNP work_xtgybuyxajfdjlqwibuztzvroa 79 9 MATTHIAS MATTHIAS NNP work_xtgybuyxajfdjlqwibuztzvroa 79 10 PLATZER,4 platzer,4 NN work_xtgybuyxajfdjlqwibuztzvroa 79 11 R. R. NNP work_xtgybuyxajfdjlqwibuztzvroa 79 12 FRANK FRANK NNP work_xtgybuyxajfdjlqwibuztzvroa 79 13 KOOY,5 KOOY,5 NNP work_xtgybuyxajfdjlqwibuztzvroa 79 14 HERBERT HERBERT NNP work_xtgybuyxajfdjlqwibuztzvroa 79 15 A. A. NNP work_xtgybuyxajfdjlqwibuztzvroa 79 16 LUBS,6 LUBS,6 VBZ work_xtgybuyxajfdjlqwibuztzvroa 79 17 ROGER ROGER NNP work_xtgybuyxajfdjlqwibuztzvroa 79 18 E. E. NNP work_xtgybuyxajfdjlqwibuztzvroa 79 19 STEVENSON,2 stevenson,2 NN work_xtgybuyxajfdjlqwibuztzvroa 79 20 JULIANE JULIANE NNP work_xtgybuyxajfdjlqwibuztzvroa 79 21 RAMSER,1 ramser,1 RB work_xtgybuyxajfdjlqwibuztzvroa 79 22 AND and CC work_xtgybuyxajfdjlqwibuztzvroa 79 23 CHARLES CHARLES NNP work_xtgybuyxajfdjlqwibuztzvroa 79 24 E. E. NNP work_xtgybuyxajfdjlqwibuztzvroa 79 25 SCHWARTZ2 SCHWARTZ2 NNP work_xtgybuyxajfdjlqwibuztzvroa 79 26 1Department 1department CD work_xtgybuyxajfdjlqwibuztzvroa 79 27 of of IN work_xtgybuyxajfdjlqwibuztzvroa 79 28 Medical Medical NNP work_xtgybuyxajfdjlqwibuztzvroa 79 29 Genetics Genetics NNP work_xtgybuyxajfdjlqwibuztzvroa 79 30 at at IN work_xtgybuyxajfdjlqwibuztzvroa 79 31 the the DT work_xtgybuyxajfdjlqwibuztzvroa 79 32 Ludwig- Ludwig- NNP work_xtgybuyxajfdjlqwibuztzvroa 79 33 Maximilians Maximilians NNP work_xtgybuyxajfdjlqwibuztzvroa 79 34 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 79 35 University University NNP work_xtgybuyxajfdjlqwibuztzvroa 79 36 , , , work_xtgybuyxajfdjlqwibuztzvroa 79 37 Munich Munich NNP work_xtgybuyxajfdjlqwibuztzvroa 79 38 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 79 39 2J.C. 2j.c. CD work_xtgybuyxajfdjlqwibuztzvroa 80 1 Self Self NNP work_xtgybuyxajfdjlqwibuztzvroa 80 2 Research Research NNP work_xtgybuyxajfdjlqwibuztzvroa 80 3 Institute Institute NNP work_xtgybuyxajfdjlqwibuztzvroa 80 4 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 5 Greenwood Greenwood NNP work_xtgybuyxajfdjlqwibuztzvroa 80 6 Genetic Genetic NNP work_xtgybuyxajfdjlqwibuztzvroa 80 7 Center Center NNP work_xtgybuyxajfdjlqwibuztzvroa 80 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 9 Greenwood Greenwood NNP work_xtgybuyxajfdjlqwibuztzvroa 80 10 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 11 SC SC NNP work_xtgybuyxajfdjlqwibuztzvroa 80 12 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 80 13 3Royal 3Royal NNP work_xtgybuyxajfdjlqwibuztzvroa 80 14 University University NNP work_xtgybuyxajfdjlqwibuztzvroa 80 15 Hospital Hospital NNP work_xtgybuyxajfdjlqwibuztzvroa 80 16 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 17 Saskatoon Saskatoon NNP work_xtgybuyxajfdjlqwibuztzvroa 80 18 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 19 Canada Canada NNP work_xtgybuyxajfdjlqwibuztzvroa 80 20 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 80 21 4Institute 4Institute NNP work_xtgybuyxajfdjlqwibuztzvroa 80 22 for for IN work_xtgybuyxajfdjlqwibuztzvroa 80 23 Molecular Molecular NNP work_xtgybuyxajfdjlqwibuztzvroa 80 24 Biotechnology Biotechnology NNP work_xtgybuyxajfdjlqwibuztzvroa 80 25 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 26 Jena Jena NNP work_xtgybuyxajfdjlqwibuztzvroa 80 27 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 28 Germany Germany NNP work_xtgybuyxajfdjlqwibuztzvroa 80 29 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 80 30 5Department 5department CD work_xtgybuyxajfdjlqwibuztzvroa 80 31 of of IN work_xtgybuyxajfdjlqwibuztzvroa 80 32 Medical Medical NNP work_xtgybuyxajfdjlqwibuztzvroa 80 33 Genetics Genetics NNPS work_xtgybuyxajfdjlqwibuztzvroa 80 34 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 35 University University NNP work_xtgybuyxajfdjlqwibuztzvroa 80 36 of of IN work_xtgybuyxajfdjlqwibuztzvroa 80 37 Antwerp Antwerp NNP work_xtgybuyxajfdjlqwibuztzvroa 80 38 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 39 Antwerp Antwerp NNP work_xtgybuyxajfdjlqwibuztzvroa 80 40 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 41 Belgium Belgium NNP work_xtgybuyxajfdjlqwibuztzvroa 80 42 ; ; : work_xtgybuyxajfdjlqwibuztzvroa 80 43 and and CC work_xtgybuyxajfdjlqwibuztzvroa 80 44 6Mailman 6Mailman NNP work_xtgybuyxajfdjlqwibuztzvroa 80 45 Center Center NNP work_xtgybuyxajfdjlqwibuztzvroa 80 46 for for IN work_xtgybuyxajfdjlqwibuztzvroa 80 47 Child Child NNP work_xtgybuyxajfdjlqwibuztzvroa 80 48 Development Development NNP work_xtgybuyxajfdjlqwibuztzvroa 80 49 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 50 University University NNP work_xtgybuyxajfdjlqwibuztzvroa 80 51 of of IN work_xtgybuyxajfdjlqwibuztzvroa 80 52 Miami Miami NNP work_xtgybuyxajfdjlqwibuztzvroa 80 53 School School NNP work_xtgybuyxajfdjlqwibuztzvroa 80 54 of of IN work_xtgybuyxajfdjlqwibuztzvroa 80 55 Medicine Medicine NNP work_xtgybuyxajfdjlqwibuztzvroa 80 56 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 57 Miami Miami NNP work_xtgybuyxajfdjlqwibuztzvroa 80 58 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 59 FL FL NNP work_xtgybuyxajfdjlqwibuztzvroa 80 60 Electronic Electronic NNP work_xtgybuyxajfdjlqwibuztzvroa 80 61 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 80 62 Database Database NNP work_xtgybuyxajfdjlqwibuztzvroa 80 63 Information Information NNP work_xtgybuyxajfdjlqwibuztzvroa 80 64 Accession Accession NNP work_xtgybuyxajfdjlqwibuztzvroa 80 65 numbers number NNS work_xtgybuyxajfdjlqwibuztzvroa 80 66 and and CC work_xtgybuyxajfdjlqwibuztzvroa 80 67 URLs url NNS work_xtgybuyxajfdjlqwibuztzvroa 80 68 for for IN work_xtgybuyxajfdjlqwibuztzvroa 80 69 data datum NNS work_xtgybuyxajfdjlqwibuztzvroa 80 70 presented present VBN work_xtgybuyxajfdjlqwibuztzvroa 80 71 herein herein NNP work_xtgybuyxajfdjlqwibuztzvroa 80 72 are be VBP work_xtgybuyxajfdjlqwibuztzvroa 80 73 as as IN work_xtgybuyxajfdjlqwibuztzvroa 80 74 follows follow VBZ work_xtgybuyxajfdjlqwibuztzvroa 80 75 : : : work_xtgybuyxajfdjlqwibuztzvroa 80 76 GenBank GenBank NNP work_xtgybuyxajfdjlqwibuztzvroa 80 77 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 78 http://www.ncbi.nlm.nih.gov/Genbank/ http://www.ncbi.nlm.nih.gov/Genbank/ NNP work_xtgybuyxajfdjlqwibuztzvroa 80 79 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 80 80 for for IN work_xtgybuyxajfdjlqwibuztzvroa 80 81 PQBP1 PQBP1 NNP work_xtgybuyxajfdjlqwibuztzvroa 80 82 [ [ -LRB- work_xtgybuyxajfdjlqwibuztzvroa 80 83 accession accession NN work_xtgybuyxajfdjlqwibuztzvroa 80 84 number number NN work_xtgybuyxajfdjlqwibuztzvroa 80 85 NM_005710 NM_005710 NNP work_xtgybuyxajfdjlqwibuztzvroa 80 86 ] ] -RRB- work_xtgybuyxajfdjlqwibuztzvroa 80 87 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 80 88 Online Online NNP work_xtgybuyxajfdjlqwibuztzvroa 80 89 Mendelian Mendelian NNP work_xtgybuyxajfdjlqwibuztzvroa 80 90 Inheritance Inheritance NNP work_xtgybuyxajfdjlqwibuztzvroa 80 91 in in IN work_xtgybuyxajfdjlqwibuztzvroa 80 92 Man Man NNP work_xtgybuyxajfdjlqwibuztzvroa 80 93 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 80 94 OMIM OMIM NNP work_xtgybuyxajfdjlqwibuztzvroa 80 95 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 80 96 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 97 http://www http://www ADD work_xtgybuyxajfdjlqwibuztzvroa 80 98 .ncbi.nlm.nih.gov .ncbi.nlm.nih.gov . work_xtgybuyxajfdjlqwibuztzvroa 80 99 / / SYM work_xtgybuyxajfdjlqwibuztzvroa 80 100 Omim/ Omim/ NNS work_xtgybuyxajfdjlqwibuztzvroa 80 101 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 80 102 for for IN work_xtgybuyxajfdjlqwibuztzvroa 80 103 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 80 104 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 80 105 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 106 PQBP1 PQBP1 NNS work_xtgybuyxajfdjlqwibuztzvroa 80 107 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 108 Sutherland Sutherland NNP work_xtgybuyxajfdjlqwibuztzvroa 80 109 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 80 110 Haan Haan NNP work_xtgybuyxajfdjlqwibuztzvroa 80 111 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 80 112 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 113 Allan Allan NNP work_xtgybuyxajfdjlqwibuztzvroa 80 114 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 80 115 Herndon Herndon NNP work_xtgybuyxajfdjlqwibuztzvroa 80 116 syn- syn- NN work_xtgybuyxajfdjlqwibuztzvroa 80 117 drome drome NN work_xtgybuyxajfdjlqwibuztzvroa 80 118 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 119 and and CC work_xtgybuyxajfdjlqwibuztzvroa 80 120 fragile fragile JJ work_xtgybuyxajfdjlqwibuztzvroa 80 121 X x NN work_xtgybuyxajfdjlqwibuztzvroa 80 122 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 80 123 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 80 124 References References NNPS work_xtgybuyxajfdjlqwibuztzvroa 80 125 Allan Allan NNP work_xtgybuyxajfdjlqwibuztzvroa 80 126 W W NNP work_xtgybuyxajfdjlqwibuztzvroa 80 127 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 128 Herndon Herndon NNP work_xtgybuyxajfdjlqwibuztzvroa 80 129 CN CN NNP work_xtgybuyxajfdjlqwibuztzvroa 80 130 , , , work_xtgybuyxajfdjlqwibuztzvroa 80 131 Dudley Dudley NNP work_xtgybuyxajfdjlqwibuztzvroa 80 132 FC FC NNP work_xtgybuyxajfdjlqwibuztzvroa 80 133 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 80 134 1944 1944 CD work_xtgybuyxajfdjlqwibuztzvroa 80 135 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 80 136 Some some DT work_xtgybuyxajfdjlqwibuztzvroa 80 137 examples example NNS work_xtgybuyxajfdjlqwibuztzvroa 80 138 of of IN work_xtgybuyxajfdjlqwibuztzvroa 80 139 the the DT work_xtgybuyxajfdjlqwibuztzvroa 80 140 inheritance inheritance NN work_xtgybuyxajfdjlqwibuztzvroa 80 141 of of IN work_xtgybuyxajfdjlqwibuztzvroa 80 142 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 80 143 deficiency deficiency NN work_xtgybuyxajfdjlqwibuztzvroa 80 144 : : : work_xtgybuyxajfdjlqwibuztzvroa 80 145 apparently apparently RB work_xtgybuyxajfdjlqwibuztzvroa 80 146 sex sex NN work_xtgybuyxajfdjlqwibuztzvroa 80 147 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 80 148 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 80 149 idiocy idiocy NNP work_xtgybuyxajfdjlqwibuztzvroa 80 150 and and CC work_xtgybuyxajfdjlqwibuztzvroa 80 151 microcephaly microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 80 152 . . . work_xtgybuyxajfdjlqwibuztzvroa 81 1 Am Am NNP work_xtgybuyxajfdjlqwibuztzvroa 81 2 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 81 3 Ment Ment NNP work_xtgybuyxajfdjlqwibuztzvroa 81 4 Defic Defic NNP work_xtgybuyxajfdjlqwibuztzvroa 81 5 48:325–334 48:325–334 CD work_xtgybuyxajfdjlqwibuztzvroa 81 6 Archidiacono Archidiacono NNP work_xtgybuyxajfdjlqwibuztzvroa 81 7 N N NNP work_xtgybuyxajfdjlqwibuztzvroa 81 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 81 9 Rocchi Rocchi NNP work_xtgybuyxajfdjlqwibuztzvroa 81 10 M M NNP work_xtgybuyxajfdjlqwibuztzvroa 81 11 , , , work_xtgybuyxajfdjlqwibuztzvroa 81 12 Rinaldi Rinaldi NNP work_xtgybuyxajfdjlqwibuztzvroa 81 13 A A NNP work_xtgybuyxajfdjlqwibuztzvroa 81 14 , , , work_xtgybuyxajfdjlqwibuztzvroa 81 15 Filippi Filippi NNP work_xtgybuyxajfdjlqwibuztzvroa 81 16 G G NNP work_xtgybuyxajfdjlqwibuztzvroa 81 17 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 81 18 1987 1987 CD work_xtgybuyxajfdjlqwibuztzvroa 81 19 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 81 20 X- X- VBZ work_xtgybuyxajfdjlqwibuztzvroa 81 21 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 81 22 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 81 23 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 81 24 . . . work_xtgybuyxajfdjlqwibuztzvroa 82 1 II ii CD work_xtgybuyxajfdjlqwibuztzvroa 82 2 . . . work_xtgybuyxajfdjlqwibuztzvroa 83 1 Renpenning renpenne VBG work_xtgybuyxajfdjlqwibuztzvroa 83 2 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 83 3 and and CC work_xtgybuyxajfdjlqwibuztzvroa 83 4 780 780 CD work_xtgybuyxajfdjlqwibuztzvroa 83 5 Letter Letter NNP work_xtgybuyxajfdjlqwibuztzvroa 83 6 to to IN work_xtgybuyxajfdjlqwibuztzvroa 83 7 the the DT work_xtgybuyxajfdjlqwibuztzvroa 83 8 Editor Editor NNP work_xtgybuyxajfdjlqwibuztzvroa 83 9 other other JJ work_xtgybuyxajfdjlqwibuztzvroa 83 10 types type NNS work_xtgybuyxajfdjlqwibuztzvroa 83 11 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 83 12 report report NN work_xtgybuyxajfdjlqwibuztzvroa 83 13 of of IN work_xtgybuyxajfdjlqwibuztzvroa 83 14 14 14 CD work_xtgybuyxajfdjlqwibuztzvroa 83 15 families family NNS work_xtgybuyxajfdjlqwibuztzvroa 83 16 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 83 17 . . . work_xtgybuyxajfdjlqwibuztzvroa 84 1 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 84 2 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 84 3 Hum Hum NNP work_xtgybuyxajfdjlqwibuztzvroa 84 4 35:381 35:381 CD work_xtgybuyxajfdjlqwibuztzvroa 84 5 – – : work_xtgybuyxajfdjlqwibuztzvroa 84 6 398 398 CD work_xtgybuyxajfdjlqwibuztzvroa 84 7 Bickers Bickers NNPS work_xtgybuyxajfdjlqwibuztzvroa 84 8 DA DA NNP work_xtgybuyxajfdjlqwibuztzvroa 84 9 , , , work_xtgybuyxajfdjlqwibuztzvroa 84 10 Adams Adams NNP work_xtgybuyxajfdjlqwibuztzvroa 84 11 RD RD NNP work_xtgybuyxajfdjlqwibuztzvroa 84 12 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 84 13 1949 1949 CD work_xtgybuyxajfdjlqwibuztzvroa 84 14 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 84 15 Hereditary hereditary JJ work_xtgybuyxajfdjlqwibuztzvroa 84 16 stenosis stenosis NN work_xtgybuyxajfdjlqwibuztzvroa 84 17 of of IN work_xtgybuyxajfdjlqwibuztzvroa 84 18 the the DT work_xtgybuyxajfdjlqwibuztzvroa 84 19 aq- aq- JJ work_xtgybuyxajfdjlqwibuztzvroa 84 20 ueduct ueduct NN work_xtgybuyxajfdjlqwibuztzvroa 84 21 of of IN work_xtgybuyxajfdjlqwibuztzvroa 84 22 Sylvius Sylvius NNP work_xtgybuyxajfdjlqwibuztzvroa 84 23 as as IN work_xtgybuyxajfdjlqwibuztzvroa 84 24 a a DT work_xtgybuyxajfdjlqwibuztzvroa 84 25 cause cause NN work_xtgybuyxajfdjlqwibuztzvroa 84 26 of of IN work_xtgybuyxajfdjlqwibuztzvroa 84 27 congenital congenital JJ work_xtgybuyxajfdjlqwibuztzvroa 84 28 hydrocephalus hydrocephalus NN work_xtgybuyxajfdjlqwibuztzvroa 84 29 . . . work_xtgybuyxajfdjlqwibuztzvroa 85 1 Brain Brain NNP work_xtgybuyxajfdjlqwibuztzvroa 85 2 72:246–262 72:246–262 CD work_xtgybuyxajfdjlqwibuztzvroa 85 3 Gerrard Gerrard NNP work_xtgybuyxajfdjlqwibuztzvroa 85 4 JW JW NNP work_xtgybuyxajfdjlqwibuztzvroa 85 5 , , , work_xtgybuyxajfdjlqwibuztzvroa 85 6 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 85 7 HJ HJ NNP work_xtgybuyxajfdjlqwibuztzvroa 85 8 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 85 9 1974 1974 CD work_xtgybuyxajfdjlqwibuztzvroa 85 10 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 85 11 Sex sex NN work_xtgybuyxajfdjlqwibuztzvroa 85 12 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 85 13 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 85 14 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 85 15 retar- retar- NNP work_xtgybuyxajfdjlqwibuztzvroa 85 16 dation dation NN work_xtgybuyxajfdjlqwibuztzvroa 85 17 . . . work_xtgybuyxajfdjlqwibuztzvroa 86 1 Lancet Lancet NNP work_xtgybuyxajfdjlqwibuztzvroa 86 2 1:1346 1:1346 CD work_xtgybuyxajfdjlqwibuztzvroa 86 3 Howard Howard NNP work_xtgybuyxajfdjlqwibuztzvroa 86 4 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 86 5 Peebles Peebles NNP work_xtgybuyxajfdjlqwibuztzvroa 86 6 PN PN NNP work_xtgybuyxajfdjlqwibuztzvroa 86 7 , , , work_xtgybuyxajfdjlqwibuztzvroa 86 8 Stoddard Stoddard NNP work_xtgybuyxajfdjlqwibuztzvroa 86 9 GR GR NNP work_xtgybuyxajfdjlqwibuztzvroa 86 10 , , , work_xtgybuyxajfdjlqwibuztzvroa 86 11 Mims Mims NNP work_xtgybuyxajfdjlqwibuztzvroa 86 12 MG MG NNP work_xtgybuyxajfdjlqwibuztzvroa 86 13 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 86 14 1979 1979 CD work_xtgybuyxajfdjlqwibuztzvroa 86 15 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 86 16 Familial Familial NNP work_xtgybuyxajfdjlqwibuztzvroa 86 17 X X NNP work_xtgybuyxajfdjlqwibuztzvroa 86 18 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 86 19 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 86 20 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 86 21 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 86 22 , , , work_xtgybuyxajfdjlqwibuztzvroa 86 23 verbal verbal JJ work_xtgybuyxajfdjlqwibuztzvroa 86 24 disability disability NN work_xtgybuyxajfdjlqwibuztzvroa 86 25 , , , work_xtgybuyxajfdjlqwibuztzvroa 86 26 and and CC work_xtgybuyxajfdjlqwibuztzvroa 86 27 marker marker NN work_xtgybuyxajfdjlqwibuztzvroa 86 28 X x NN work_xtgybuyxajfdjlqwibuztzvroa 86 29 chromosomes chromosome NNS work_xtgybuyxajfdjlqwibuztzvroa 86 30 . . . work_xtgybuyxajfdjlqwibuztzvroa 87 1 Am be VBP work_xtgybuyxajfdjlqwibuztzvroa 87 2 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 87 3 Hum Hum NNP work_xtgybuyxajfdjlqwibuztzvroa 87 4 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 87 5 31:214–222 31:214–222 NNP work_xtgybuyxajfdjlqwibuztzvroa 87 6 Jennings Jennings NNP work_xtgybuyxajfdjlqwibuztzvroa 87 7 M M NNP work_xtgybuyxajfdjlqwibuztzvroa 87 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 87 9 Hall Hall NNP work_xtgybuyxajfdjlqwibuztzvroa 87 10 JG JG NNP work_xtgybuyxajfdjlqwibuztzvroa 87 11 , , , work_xtgybuyxajfdjlqwibuztzvroa 87 12 Hoehn Hoehn NNP work_xtgybuyxajfdjlqwibuztzvroa 87 13 H H NNP work_xtgybuyxajfdjlqwibuztzvroa 87 14 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 87 15 1980 1980 CD work_xtgybuyxajfdjlqwibuztzvroa 87 16 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 87 17 Significance significance NN work_xtgybuyxajfdjlqwibuztzvroa 87 18 of of IN work_xtgybuyxajfdjlqwibuztzvroa 87 19 phe- phe- RB work_xtgybuyxajfdjlqwibuztzvroa 87 20 notypic notypic JJ work_xtgybuyxajfdjlqwibuztzvroa 87 21 and and CC work_xtgybuyxajfdjlqwibuztzvroa 87 22 chromosomal chromosomal JJ work_xtgybuyxajfdjlqwibuztzvroa 87 23 abnormalities abnormality NNS work_xtgybuyxajfdjlqwibuztzvroa 87 24 in in IN work_xtgybuyxajfdjlqwibuztzvroa 87 25 X X NNP work_xtgybuyxajfdjlqwibuztzvroa 87 26 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 87 27 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 87 28 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 87 29 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 87 30 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 87 31 Martin Martin NNP work_xtgybuyxajfdjlqwibuztzvroa 87 32 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 87 33 Bell Bell NNP work_xtgybuyxajfdjlqwibuztzvroa 87 34 or or CC work_xtgybuyxajfdjlqwibuztzvroa 87 35 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 87 36 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 87 37 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 87 38 . . . work_xtgybuyxajfdjlqwibuztzvroa 88 1 Am be VBP work_xtgybuyxajfdjlqwibuztzvroa 88 2 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 88 3 Med Med NNP work_xtgybuyxajfdjlqwibuztzvroa 88 4 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 88 5 7:417–432 7:417–432 . work_xtgybuyxajfdjlqwibuztzvroa 88 6 Kalscheuer Kalscheuer NNP work_xtgybuyxajfdjlqwibuztzvroa 88 7 VM VM NNP work_xtgybuyxajfdjlqwibuztzvroa 88 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 88 9 Freude Freude NNP work_xtgybuyxajfdjlqwibuztzvroa 88 10 K K NNP work_xtgybuyxajfdjlqwibuztzvroa 88 11 , , , work_xtgybuyxajfdjlqwibuztzvroa 88 12 Musante Musante NNP work_xtgybuyxajfdjlqwibuztzvroa 88 13 L L NNP work_xtgybuyxajfdjlqwibuztzvroa 88 14 , , , work_xtgybuyxajfdjlqwibuztzvroa 88 15 Jensen Jensen NNP work_xtgybuyxajfdjlqwibuztzvroa 88 16 LJ LJ NNP work_xtgybuyxajfdjlqwibuztzvroa 88 17 , , , work_xtgybuyxajfdjlqwibuztzvroa 88 18 Yntema Yntema NNP work_xtgybuyxajfdjlqwibuztzvroa 88 19 HG HG NNP work_xtgybuyxajfdjlqwibuztzvroa 88 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 88 21 Gécz gécz LS work_xtgybuyxajfdjlqwibuztzvroa 88 22 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 88 23 , , , work_xtgybuyxajfdjlqwibuztzvroa 88 24 Sefiani Sefiani NNP work_xtgybuyxajfdjlqwibuztzvroa 88 25 A A NNP work_xtgybuyxajfdjlqwibuztzvroa 88 26 , , , work_xtgybuyxajfdjlqwibuztzvroa 88 27 et et NNP work_xtgybuyxajfdjlqwibuztzvroa 88 28 al al NNP work_xtgybuyxajfdjlqwibuztzvroa 88 29 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 88 30 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 88 31 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 88 32 Mutations mutation NNS work_xtgybuyxajfdjlqwibuztzvroa 88 33 in in IN work_xtgybuyxajfdjlqwibuztzvroa 88 34 the the DT work_xtgybuyxajfdjlqwibuztzvroa 88 35 polyglutam- polyglutam- NN work_xtgybuyxajfdjlqwibuztzvroa 88 36 ine ine NN work_xtgybuyxajfdjlqwibuztzvroa 88 37 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 88 38 binding bind VBG work_xtgybuyxajfdjlqwibuztzvroa 88 39 protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 88 40 1 1 CD work_xtgybuyxajfdjlqwibuztzvroa 88 41 gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 88 42 cause cause NN work_xtgybuyxajfdjlqwibuztzvroa 88 43 X X NNP work_xtgybuyxajfdjlqwibuztzvroa 88 44 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 88 45 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 88 46 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 88 47 retarda- retarda- NN work_xtgybuyxajfdjlqwibuztzvroa 88 48 tion tion NN work_xtgybuyxajfdjlqwibuztzvroa 88 49 . . . work_xtgybuyxajfdjlqwibuztzvroa 89 1 Nat Nat NNP work_xtgybuyxajfdjlqwibuztzvroa 89 2 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 89 3 35:313–315 35:313–315 NNP work_xtgybuyxajfdjlqwibuztzvroa 89 4 Losowsky Losowsky NNP work_xtgybuyxajfdjlqwibuztzvroa 89 5 MS MS NNP work_xtgybuyxajfdjlqwibuztzvroa 89 6 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 89 7 1961 1961 CD work_xtgybuyxajfdjlqwibuztzvroa 89 8 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 89 9 Hereditary hereditary JJ work_xtgybuyxajfdjlqwibuztzvroa 89 10 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 89 11 defect defect NN work_xtgybuyxajfdjlqwibuztzvroa 89 12 showing show VBG work_xtgybuyxajfdjlqwibuztzvroa 89 13 the the DT work_xtgybuyxajfdjlqwibuztzvroa 89 14 pattern pattern NN work_xtgybuyxajfdjlqwibuztzvroa 89 15 of of IN work_xtgybuyxajfdjlqwibuztzvroa 89 16 sex sex NN work_xtgybuyxajfdjlqwibuztzvroa 89 17 influence influence NN work_xtgybuyxajfdjlqwibuztzvroa 89 18 . . . work_xtgybuyxajfdjlqwibuztzvroa 90 1 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 90 2 Ment Ment NNP work_xtgybuyxajfdjlqwibuztzvroa 90 3 Defic Defic NNP work_xtgybuyxajfdjlqwibuztzvroa 90 4 Res Res NNP work_xtgybuyxajfdjlqwibuztzvroa 90 5 5:60–62 5:60–62 NN work_xtgybuyxajfdjlqwibuztzvroa 90 6 Martin Martin NNP work_xtgybuyxajfdjlqwibuztzvroa 90 7 JP JP NNP work_xtgybuyxajfdjlqwibuztzvroa 90 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 90 9 Bell Bell NNP work_xtgybuyxajfdjlqwibuztzvroa 90 10 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 90 11 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 90 12 1943 1943 CD work_xtgybuyxajfdjlqwibuztzvroa 90 13 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 90 14 A a DT work_xtgybuyxajfdjlqwibuztzvroa 90 15 pedigree pedigree NN work_xtgybuyxajfdjlqwibuztzvroa 90 16 of of IN work_xtgybuyxajfdjlqwibuztzvroa 90 17 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 90 18 defect defect JJ work_xtgybuyxajfdjlqwibuztzvroa 90 19 showing show VBG work_xtgybuyxajfdjlqwibuztzvroa 90 20 sex sex NN work_xtgybuyxajfdjlqwibuztzvroa 90 21 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 90 22 linkage linkage NN work_xtgybuyxajfdjlqwibuztzvroa 90 23 . . . work_xtgybuyxajfdjlqwibuztzvroa 91 1 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 91 2 Neurol Neurol NNP work_xtgybuyxajfdjlqwibuztzvroa 91 3 Psychiatry Psychiatry NNP work_xtgybuyxajfdjlqwibuztzvroa 91 4 6:154–157 6:154–157 CD work_xtgybuyxajfdjlqwibuztzvroa 91 5 McLaughlin McLaughlin NNP work_xtgybuyxajfdjlqwibuztzvroa 91 6 JF JF NNP work_xtgybuyxajfdjlqwibuztzvroa 91 7 , , , work_xtgybuyxajfdjlqwibuztzvroa 91 8 Kriegsmann Kriegsmann NNP work_xtgybuyxajfdjlqwibuztzvroa 91 9 E E NNP work_xtgybuyxajfdjlqwibuztzvroa 91 10 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 91 11 1980 1980 CD work_xtgybuyxajfdjlqwibuztzvroa 91 12 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 91 13 Developmental Developmental NNP work_xtgybuyxajfdjlqwibuztzvroa 91 14 dys- dys- NN work_xtgybuyxajfdjlqwibuztzvroa 91 15 praxias praxia NNS work_xtgybuyxajfdjlqwibuztzvroa 91 16 in in IN work_xtgybuyxajfdjlqwibuztzvroa 91 17 a a DT work_xtgybuyxajfdjlqwibuztzvroa 91 18 family family NN work_xtgybuyxajfdjlqwibuztzvroa 91 19 with with IN work_xtgybuyxajfdjlqwibuztzvroa 91 20 X x NN work_xtgybuyxajfdjlqwibuztzvroa 91 21 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 91 22 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 91 23 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 91 24 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 91 25 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 91 26 Ren- Ren- NNP work_xtgybuyxajfdjlqwibuztzvroa 91 27 penning penning NN work_xtgybuyxajfdjlqwibuztzvroa 91 28 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 91 29 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 91 30 . . . work_xtgybuyxajfdjlqwibuztzvroa 92 1 Dev Dev NNP work_xtgybuyxajfdjlqwibuztzvroa 92 2 Med Med NNP work_xtgybuyxajfdjlqwibuztzvroa 92 3 Child Child NNP work_xtgybuyxajfdjlqwibuztzvroa 92 4 Neurol Neurol NNP work_xtgybuyxajfdjlqwibuztzvroa 92 5 22:84–92 22:84–92 CD work_xtgybuyxajfdjlqwibuztzvroa 92 6 Proops Proops NNPS work_xtgybuyxajfdjlqwibuztzvroa 92 7 R R NNP work_xtgybuyxajfdjlqwibuztzvroa 92 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 92 9 Webb Webb NNP work_xtgybuyxajfdjlqwibuztzvroa 92 10 T T NNP work_xtgybuyxajfdjlqwibuztzvroa 92 11 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 92 12 1981 1981 CD work_xtgybuyxajfdjlqwibuztzvroa 92 13 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 92 14 The the DT work_xtgybuyxajfdjlqwibuztzvroa 92 15 fragile fragile JJ work_xtgybuyxajfdjlqwibuztzvroa 92 16 X x NN work_xtgybuyxajfdjlqwibuztzvroa 92 17 chromosome chromosome NN work_xtgybuyxajfdjlqwibuztzvroa 92 18 in in IN work_xtgybuyxajfdjlqwibuztzvroa 92 19 the the DT work_xtgybuyxajfdjlqwibuztzvroa 92 20 Martin Martin NNP work_xtgybuyxajfdjlqwibuztzvroa 92 21 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 92 22 Bell Bell NNP work_xtgybuyxajfdjlqwibuztzvroa 92 23 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 92 24 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 92 25 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 92 26 and and CC work_xtgybuyxajfdjlqwibuztzvroa 92 27 in in IN work_xtgybuyxajfdjlqwibuztzvroa 92 28 males male NNS work_xtgybuyxajfdjlqwibuztzvroa 92 29 with with IN work_xtgybuyxajfdjlqwibuztzvroa 92 30 other other JJ work_xtgybuyxajfdjlqwibuztzvroa 92 31 forms form NNS work_xtgybuyxajfdjlqwibuztzvroa 92 32 of of IN work_xtgybuyxajfdjlqwibuztzvroa 92 33 familial familial JJ work_xtgybuyxajfdjlqwibuztzvroa 92 34 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 92 35 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 92 36 . . . work_xtgybuyxajfdjlqwibuztzvroa 93 1 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 93 2 Med Med NNP work_xtgybuyxajfdjlqwibuztzvroa 93 3 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 93 4 18:366 18:366 CD work_xtgybuyxajfdjlqwibuztzvroa 93 5 – – : work_xtgybuyxajfdjlqwibuztzvroa 93 6 373 373 CD work_xtgybuyxajfdjlqwibuztzvroa 93 7 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 93 8 H H NNP work_xtgybuyxajfdjlqwibuztzvroa 93 9 , , , work_xtgybuyxajfdjlqwibuztzvroa 93 10 Gerrard Gerrard NNP work_xtgybuyxajfdjlqwibuztzvroa 93 11 JW JW NNP work_xtgybuyxajfdjlqwibuztzvroa 93 12 , , , work_xtgybuyxajfdjlqwibuztzvroa 93 13 Zaleski Zaleski NNP work_xtgybuyxajfdjlqwibuztzvroa 93 14 WA WA NNP work_xtgybuyxajfdjlqwibuztzvroa 93 15 , , , work_xtgybuyxajfdjlqwibuztzvroa 93 16 Tabata Tabata NNP work_xtgybuyxajfdjlqwibuztzvroa 93 17 T T NNP work_xtgybuyxajfdjlqwibuztzvroa 93 18 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 93 19 1962 1962 CD work_xtgybuyxajfdjlqwibuztzvroa 93 20 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 93 21 Familial familial JJ work_xtgybuyxajfdjlqwibuztzvroa 93 22 sex sex NN work_xtgybuyxajfdjlqwibuztzvroa 93 23 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 93 24 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 93 25 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 93 26 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 93 27 . . . work_xtgybuyxajfdjlqwibuztzvroa 94 1 Can Can MD work_xtgybuyxajfdjlqwibuztzvroa 94 2 Med Med NNP work_xtgybuyxajfdjlqwibuztzvroa 94 3 Assoc Assoc NNP work_xtgybuyxajfdjlqwibuztzvroa 94 4 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 94 5 87:954–957 87:954–957 CD work_xtgybuyxajfdjlqwibuztzvroa 94 6 Richards Richards NNP work_xtgybuyxajfdjlqwibuztzvroa 94 7 BW BW NNP work_xtgybuyxajfdjlqwibuztzvroa 94 8 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 94 9 1970 1970 CD work_xtgybuyxajfdjlqwibuztzvroa 94 10 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 94 11 “ " `` work_xtgybuyxajfdjlqwibuztzvroa 94 12 Renpenning renpenne VBG work_xtgybuyxajfdjlqwibuztzvroa 94 13 ” " '' work_xtgybuyxajfdjlqwibuztzvroa 94 14 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 94 15 . . . work_xtgybuyxajfdjlqwibuztzvroa 95 1 Lancet Lancet NNP work_xtgybuyxajfdjlqwibuztzvroa 95 2 2:520 2:520 CD work_xtgybuyxajfdjlqwibuztzvroa 95 3 Steele steele NN work_xtgybuyxajfdjlqwibuztzvroa 95 4 MW mw NN work_xtgybuyxajfdjlqwibuztzvroa 95 5 , , , work_xtgybuyxajfdjlqwibuztzvroa 95 6 Chorazy Chorazy NNP work_xtgybuyxajfdjlqwibuztzvroa 95 7 AL AL NNP work_xtgybuyxajfdjlqwibuztzvroa 95 8 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 95 9 1974 1974 CD work_xtgybuyxajfdjlqwibuztzvroa 95 10 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 95 11 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 95 12 ’s ’s POS work_xtgybuyxajfdjlqwibuztzvroa 95 13 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 95 14 . . . work_xtgybuyxajfdjlqwibuztzvroa 96 1 Lan- Lan- NNP work_xtgybuyxajfdjlqwibuztzvroa 96 2 cet cet NN work_xtgybuyxajfdjlqwibuztzvroa 96 3 1:752–753 1:752–753 NNP work_xtgybuyxajfdjlqwibuztzvroa 96 4 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 96 5 RE RE NNP work_xtgybuyxajfdjlqwibuztzvroa 96 6 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 96 7 2000 2000 CD work_xtgybuyxajfdjlqwibuztzvroa 96 8 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 96 9 Splitting Splitting NNP work_xtgybuyxajfdjlqwibuztzvroa 96 10 and and CC work_xtgybuyxajfdjlqwibuztzvroa 96 11 lumping lump VBG work_xtgybuyxajfdjlqwibuztzvroa 96 12 in in IN work_xtgybuyxajfdjlqwibuztzvroa 96 13 the the DT work_xtgybuyxajfdjlqwibuztzvroa 96 14 nosology nosology NN work_xtgybuyxajfdjlqwibuztzvroa 96 15 of of IN work_xtgybuyxajfdjlqwibuztzvroa 96 16 XLMR XLMR NNP work_xtgybuyxajfdjlqwibuztzvroa 96 17 . . . work_xtgybuyxajfdjlqwibuztzvroa 97 1 Am be VBP work_xtgybuyxajfdjlqwibuztzvroa 97 2 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 97 3 Med Med NNP work_xtgybuyxajfdjlqwibuztzvroa 97 4 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 97 5 97:174–182 97:174–182 NNP work_xtgybuyxajfdjlqwibuztzvroa 97 6 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 97 7 RE RE NNP work_xtgybuyxajfdjlqwibuztzvroa 97 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 9 Arena Arena NNP work_xtgybuyxajfdjlqwibuztzvroa 97 10 JF JF NNP work_xtgybuyxajfdjlqwibuztzvroa 97 11 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 12 Ouzts Ouzts NNP work_xtgybuyxajfdjlqwibuztzvroa 97 13 E E NNP work_xtgybuyxajfdjlqwibuztzvroa 97 14 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 15 Gibson Gibson NNP work_xtgybuyxajfdjlqwibuztzvroa 97 16 A A NNP work_xtgybuyxajfdjlqwibuztzvroa 97 17 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 18 Shokeir Shokeir NNP work_xtgybuyxajfdjlqwibuztzvroa 97 19 MHK MHK NNP work_xtgybuyxajfdjlqwibuztzvroa 97 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 21 Vnencak Vnencak NNP work_xtgybuyxajfdjlqwibuztzvroa 97 22 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 97 23 Jones Jones NNP work_xtgybuyxajfdjlqwibuztzvroa 97 24 C C NNP work_xtgybuyxajfdjlqwibuztzvroa 97 25 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 26 Lubs Lubs NNP work_xtgybuyxajfdjlqwibuztzvroa 97 27 HA HA NNP work_xtgybuyxajfdjlqwibuztzvroa 97 28 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 29 May May NNP work_xtgybuyxajfdjlqwibuztzvroa 97 30 M M NNP work_xtgybuyxajfdjlqwibuztzvroa 97 31 , , , work_xtgybuyxajfdjlqwibuztzvroa 97 32 Schwartz Schwartz NNP work_xtgybuyxajfdjlqwibuztzvroa 97 33 CE CE NNP work_xtgybuyxajfdjlqwibuztzvroa 97 34 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 97 35 1998 1998 CD work_xtgybuyxajfdjlqwibuztzvroa 97 36 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 97 37 Renpenning renpenne VBG work_xtgybuyxajfdjlqwibuztzvroa 97 38 syndrome syndrome NN work_xtgybuyxajfdjlqwibuztzvroa 97 39 maps map NNS work_xtgybuyxajfdjlqwibuztzvroa 97 40 to to IN work_xtgybuyxajfdjlqwibuztzvroa 97 41 Xp11 Xp11 NNP work_xtgybuyxajfdjlqwibuztzvroa 97 42 . . . work_xtgybuyxajfdjlqwibuztzvroa 98 1 Am be VBP work_xtgybuyxajfdjlqwibuztzvroa 98 2 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 98 3 Hum Hum NNP work_xtgybuyxajfdjlqwibuztzvroa 98 4 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 98 5 62 62 CD work_xtgybuyxajfdjlqwibuztzvroa 98 6 : : : work_xtgybuyxajfdjlqwibuztzvroa 98 7 1092–1101 1092–1101 CD work_xtgybuyxajfdjlqwibuztzvroa 98 8 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 98 9 RE RE NNP work_xtgybuyxajfdjlqwibuztzvroa 98 10 , , , work_xtgybuyxajfdjlqwibuztzvroa 98 11 Procopio Procopio NNP work_xtgybuyxajfdjlqwibuztzvroa 98 12 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 98 13 Allen Allen NNP work_xtgybuyxajfdjlqwibuztzvroa 98 14 AM AM NNP work_xtgybuyxajfdjlqwibuztzvroa 98 15 , , , work_xtgybuyxajfdjlqwibuztzvroa 98 16 Schroer Schroer NNP work_xtgybuyxajfdjlqwibuztzvroa 98 17 RJ RJ NNP work_xtgybuyxajfdjlqwibuztzvroa 98 18 , , , work_xtgybuyxajfdjlqwibuztzvroa 98 19 Collins Collins NNP work_xtgybuyxajfdjlqwibuztzvroa 98 20 JS JS NNP work_xtgybuyxajfdjlqwibuztzvroa 98 21 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 98 22 2003 2003 CD work_xtgybuyxajfdjlqwibuztzvroa 98 23 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 98 24 Genetic Genetic NNP work_xtgybuyxajfdjlqwibuztzvroa 98 25 syndromes syndrome VBZ work_xtgybuyxajfdjlqwibuztzvroa 98 26 among among IN work_xtgybuyxajfdjlqwibuztzvroa 98 27 individuals individual NNS work_xtgybuyxajfdjlqwibuztzvroa 98 28 with with IN work_xtgybuyxajfdjlqwibuztzvroa 98 29 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 98 30 retardation retardation NN work_xtgybuyxajfdjlqwibuztzvroa 98 31 . . . work_xtgybuyxajfdjlqwibuztzvroa 99 1 Am be VBP work_xtgybuyxajfdjlqwibuztzvroa 99 2 J J NNP work_xtgybuyxajfdjlqwibuztzvroa 99 3 Med Med NNP work_xtgybuyxajfdjlqwibuztzvroa 99 4 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 99 5 123A:29–32 123a:29–32 NN work_xtgybuyxajfdjlqwibuztzvroa 99 6 Stevenson Stevenson NNP work_xtgybuyxajfdjlqwibuztzvroa 99 7 RE RE NNP work_xtgybuyxajfdjlqwibuztzvroa 99 8 , , , work_xtgybuyxajfdjlqwibuztzvroa 99 9 Schwartz Schwartz NNP work_xtgybuyxajfdjlqwibuztzvroa 99 10 CE CE NNP work_xtgybuyxajfdjlqwibuztzvroa 99 11 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 99 12 2002 2002 CD work_xtgybuyxajfdjlqwibuztzvroa 99 13 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 99 14 Clinical clinical JJ work_xtgybuyxajfdjlqwibuztzvroa 99 15 and and CC work_xtgybuyxajfdjlqwibuztzvroa 99 16 molecular molecular JJ work_xtgybuyxajfdjlqwibuztzvroa 99 17 contributions contribution NNS work_xtgybuyxajfdjlqwibuztzvroa 99 18 to to IN work_xtgybuyxajfdjlqwibuztzvroa 99 19 the the DT work_xtgybuyxajfdjlqwibuztzvroa 99 20 understanding understanding NN work_xtgybuyxajfdjlqwibuztzvroa 99 21 of of IN work_xtgybuyxajfdjlqwibuztzvroa 99 22 X x NN work_xtgybuyxajfdjlqwibuztzvroa 99 23 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 99 24 linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 99 25 mental mental JJ work_xtgybuyxajfdjlqwibuztzvroa 99 26 re- re- JJ work_xtgybuyxajfdjlqwibuztzvroa 99 27 tardation tardation NN work_xtgybuyxajfdjlqwibuztzvroa 99 28 . . . work_xtgybuyxajfdjlqwibuztzvroa 100 1 Cytogenet Cytogenet NNP work_xtgybuyxajfdjlqwibuztzvroa 100 2 Genome genome JJ work_xtgybuyxajfdjlqwibuztzvroa 100 3 Res res NN work_xtgybuyxajfdjlqwibuztzvroa 100 4 99:265–275 99:265–275 NNP work_xtgybuyxajfdjlqwibuztzvroa 100 5 Sudol Sudol NNP work_xtgybuyxajfdjlqwibuztzvroa 100 6 M M NNP work_xtgybuyxajfdjlqwibuztzvroa 100 7 , , , work_xtgybuyxajfdjlqwibuztzvroa 100 8 Sliwa Sliwa NNP work_xtgybuyxajfdjlqwibuztzvroa 100 9 K K NNP work_xtgybuyxajfdjlqwibuztzvroa 100 10 , , , work_xtgybuyxajfdjlqwibuztzvroa 100 11 Russo Russo NNP work_xtgybuyxajfdjlqwibuztzvroa 100 12 T T NNP work_xtgybuyxajfdjlqwibuztzvroa 100 13 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 100 14 2001 2001 CD work_xtgybuyxajfdjlqwibuztzvroa 100 15 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 100 16 Functions Functions NNPS work_xtgybuyxajfdjlqwibuztzvroa 100 17 of of IN work_xtgybuyxajfdjlqwibuztzvroa 100 18 WW WW NNP work_xtgybuyxajfdjlqwibuztzvroa 100 19 domains domain NNS work_xtgybuyxajfdjlqwibuztzvroa 100 20 in in IN work_xtgybuyxajfdjlqwibuztzvroa 100 21 the the DT work_xtgybuyxajfdjlqwibuztzvroa 100 22 nucleus nucleus NN work_xtgybuyxajfdjlqwibuztzvroa 100 23 . . . work_xtgybuyxajfdjlqwibuztzvroa 101 1 FEBS FEBS NNP work_xtgybuyxajfdjlqwibuztzvroa 101 2 Lett Lett NNP work_xtgybuyxajfdjlqwibuztzvroa 101 3 490:190–195 490:190–195 CD work_xtgybuyxajfdjlqwibuztzvroa 101 4 Waragai Waragai NNP work_xtgybuyxajfdjlqwibuztzvroa 101 5 M M NNP work_xtgybuyxajfdjlqwibuztzvroa 101 6 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 7 Lammers Lammers NNP work_xtgybuyxajfdjlqwibuztzvroa 101 8 CH CH NNP work_xtgybuyxajfdjlqwibuztzvroa 101 9 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 10 Takeuchi Takeuchi NNP work_xtgybuyxajfdjlqwibuztzvroa 101 11 S S NNP work_xtgybuyxajfdjlqwibuztzvroa 101 12 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 13 Imafuku Imafuku NNP work_xtgybuyxajfdjlqwibuztzvroa 101 14 I I NNP work_xtgybuyxajfdjlqwibuztzvroa 101 15 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 16 Udagawa Udagawa NNP work_xtgybuyxajfdjlqwibuztzvroa 101 17 Y Y NNP work_xtgybuyxajfdjlqwibuztzvroa 101 18 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 19 Kanazawa Kanazawa NNP work_xtgybuyxajfdjlqwibuztzvroa 101 20 I I NNP work_xtgybuyxajfdjlqwibuztzvroa 101 21 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 22 Kawabata Kawabata NNP work_xtgybuyxajfdjlqwibuztzvroa 101 23 M M NNP work_xtgybuyxajfdjlqwibuztzvroa 101 24 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 25 Mouradian Mouradian NNP work_xtgybuyxajfdjlqwibuztzvroa 101 26 MM MM NNP work_xtgybuyxajfdjlqwibuztzvroa 101 27 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 28 Okazawa Okazawa NNP work_xtgybuyxajfdjlqwibuztzvroa 101 29 H H NNP work_xtgybuyxajfdjlqwibuztzvroa 101 30 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 101 31 1999 1999 CD work_xtgybuyxajfdjlqwibuztzvroa 101 32 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 101 33 PQBP-1 PQBP-1 NNS work_xtgybuyxajfdjlqwibuztzvroa 101 34 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 35 a a DT work_xtgybuyxajfdjlqwibuztzvroa 101 36 novel novel JJ work_xtgybuyxajfdjlqwibuztzvroa 101 37 polyglutamine polyglutamine NN work_xtgybuyxajfdjlqwibuztzvroa 101 38 tract tract NN work_xtgybuyxajfdjlqwibuztzvroa 101 39 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 101 40 binding bind VBG work_xtgybuyxajfdjlqwibuztzvroa 101 41 pro- pro- NN work_xtgybuyxajfdjlqwibuztzvroa 101 42 tein tein NN work_xtgybuyxajfdjlqwibuztzvroa 101 43 , , , work_xtgybuyxajfdjlqwibuztzvroa 101 44 inhibits inhibit VBZ work_xtgybuyxajfdjlqwibuztzvroa 101 45 transcription transcription NN work_xtgybuyxajfdjlqwibuztzvroa 101 46 activation activation NN work_xtgybuyxajfdjlqwibuztzvroa 101 47 by by IN work_xtgybuyxajfdjlqwibuztzvroa 101 48 Brn-2 Brn-2 NNP work_xtgybuyxajfdjlqwibuztzvroa 101 49 and and CC work_xtgybuyxajfdjlqwibuztzvroa 101 50 affects affect VBZ work_xtgybuyxajfdjlqwibuztzvroa 101 51 cell cell NN work_xtgybuyxajfdjlqwibuztzvroa 101 52 survival survival NN work_xtgybuyxajfdjlqwibuztzvroa 101 53 . . . work_xtgybuyxajfdjlqwibuztzvroa 102 1 Hum Hum NNP work_xtgybuyxajfdjlqwibuztzvroa 102 2 Mol Mol NNP work_xtgybuyxajfdjlqwibuztzvroa 102 3 Genet Genet NNP work_xtgybuyxajfdjlqwibuztzvroa 102 4 8:977–987 8:977–987 CD work_xtgybuyxajfdjlqwibuztzvroa 102 5 Address address NN work_xtgybuyxajfdjlqwibuztzvroa 102 6 for for IN work_xtgybuyxajfdjlqwibuztzvroa 102 7 correspondence correspondence NN work_xtgybuyxajfdjlqwibuztzvroa 102 8 and and CC work_xtgybuyxajfdjlqwibuztzvroa 102 9 reprints reprint NNS work_xtgybuyxajfdjlqwibuztzvroa 102 10 : : : work_xtgybuyxajfdjlqwibuztzvroa 102 11 Dr. Dr. NNP work_xtgybuyxajfdjlqwibuztzvroa 102 12 Charles Charles NNP work_xtgybuyxajfdjlqwibuztzvroa 102 13 E. E. NNP work_xtgybuyxajfdjlqwibuztzvroa 102 14 Schwartz Schwartz NNP work_xtgybuyxajfdjlqwibuztzvroa 102 15 , , , work_xtgybuyxajfdjlqwibuztzvroa 102 16 J.C. J.C. NNP work_xtgybuyxajfdjlqwibuztzvroa 102 17 Self Self NNP work_xtgybuyxajfdjlqwibuztzvroa 102 18 Research Research NNP work_xtgybuyxajfdjlqwibuztzvroa 102 19 Institute Institute NNP work_xtgybuyxajfdjlqwibuztzvroa 102 20 , , , work_xtgybuyxajfdjlqwibuztzvroa 102 21 Greenwood Greenwood NNP work_xtgybuyxajfdjlqwibuztzvroa 102 22 Genetic Genetic NNP work_xtgybuyxajfdjlqwibuztzvroa 102 23 Center Center NNP work_xtgybuyxajfdjlqwibuztzvroa 102 24 , , , work_xtgybuyxajfdjlqwibuztzvroa 102 25 1 1 CD work_xtgybuyxajfdjlqwibuztzvroa 102 26 Gregor Gregor NNP work_xtgybuyxajfdjlqwibuztzvroa 102 27 Mendel Mendel NNP work_xtgybuyxajfdjlqwibuztzvroa 102 28 Circle Circle NNP work_xtgybuyxajfdjlqwibuztzvroa 102 29 , , , work_xtgybuyxajfdjlqwibuztzvroa 102 30 Green- Green- NNP work_xtgybuyxajfdjlqwibuztzvroa 102 31 wood wood NN work_xtgybuyxajfdjlqwibuztzvroa 102 32 , , , work_xtgybuyxajfdjlqwibuztzvroa 102 33 SC SC NNP work_xtgybuyxajfdjlqwibuztzvroa 102 34 29646 29646 CD work_xtgybuyxajfdjlqwibuztzvroa 102 35 . . . work_xtgybuyxajfdjlqwibuztzvroa 103 1 E e NN work_xtgybuyxajfdjlqwibuztzvroa 103 2 - - NN work_xtgybuyxajfdjlqwibuztzvroa 103 3 mail mail NN work_xtgybuyxajfdjlqwibuztzvroa 103 4 : : : work_xtgybuyxajfdjlqwibuztzvroa 103 5 schwartz@ggc.org schwartz@ggc.org VB work_xtgybuyxajfdjlqwibuztzvroa 103 6 � � NNP work_xtgybuyxajfdjlqwibuztzvroa 103 7 2004 2004 CD work_xtgybuyxajfdjlqwibuztzvroa 103 8 by by IN work_xtgybuyxajfdjlqwibuztzvroa 103 9 The the DT work_xtgybuyxajfdjlqwibuztzvroa 103 10 American American NNP work_xtgybuyxajfdjlqwibuztzvroa 103 11 Society Society NNP work_xtgybuyxajfdjlqwibuztzvroa 103 12 of of IN work_xtgybuyxajfdjlqwibuztzvroa 103 13 Human Human NNP work_xtgybuyxajfdjlqwibuztzvroa 103 14 Genetics Genetics NNPS work_xtgybuyxajfdjlqwibuztzvroa 103 15 . . . work_xtgybuyxajfdjlqwibuztzvroa 104 1 All all DT work_xtgybuyxajfdjlqwibuztzvroa 104 2 rights right NNS work_xtgybuyxajfdjlqwibuztzvroa 104 3 reserved reserve VBD work_xtgybuyxajfdjlqwibuztzvroa 104 4 . . . work_xtgybuyxajfdjlqwibuztzvroa 105 1 0002 0002 CD work_xtgybuyxajfdjlqwibuztzvroa 105 2 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 105 3 9297/2004/7404 9297/2004/7404 CD work_xtgybuyxajfdjlqwibuztzvroa 105 4 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 105 5 0020$15.00 0020$15.00 CD work_xtgybuyxajfdjlqwibuztzvroa 105 6 Novel Novel NNP work_xtgybuyxajfdjlqwibuztzvroa 105 7 Truncating Truncating NNP work_xtgybuyxajfdjlqwibuztzvroa 105 8 Mutations Mutations NNPS work_xtgybuyxajfdjlqwibuztzvroa 105 9 in in IN work_xtgybuyxajfdjlqwibuztzvroa 105 10 the the DT work_xtgybuyxajfdjlqwibuztzvroa 105 11 Polyglutamine Polyglutamine NNP work_xtgybuyxajfdjlqwibuztzvroa 105 12 Tract Tract NNP work_xtgybuyxajfdjlqwibuztzvroa 105 13 Binding Binding NNP work_xtgybuyxajfdjlqwibuztzvroa 105 14 Protein protein NN work_xtgybuyxajfdjlqwibuztzvroa 105 15 1 1 CD work_xtgybuyxajfdjlqwibuztzvroa 105 16 Gene gene NN work_xtgybuyxajfdjlqwibuztzvroa 105 17 ( ( -LRB- work_xtgybuyxajfdjlqwibuztzvroa 105 18 PQBP1 pqbp1 NN work_xtgybuyxajfdjlqwibuztzvroa 105 19 ) ) -RRB- work_xtgybuyxajfdjlqwibuztzvroa 105 20 Cause cause VB work_xtgybuyxajfdjlqwibuztzvroa 105 21 Renpenning Renpenning NNP work_xtgybuyxajfdjlqwibuztzvroa 105 22 Syndrome Syndrome NNP work_xtgybuyxajfdjlqwibuztzvroa 105 23 and and CC work_xtgybuyxajfdjlqwibuztzvroa 105 24 X X NNP work_xtgybuyxajfdjlqwibuztzvroa 105 25 - - HYPH work_xtgybuyxajfdjlqwibuztzvroa 105 26 Linked link VBN work_xtgybuyxajfdjlqwibuztzvroa 105 27 Mental Mental NNP work_xtgybuyxajfdjlqwibuztzvroa 105 28 Retardation Retardation NNP work_xtgybuyxajfdjlqwibuztzvroa 105 29 in in IN work_xtgybuyxajfdjlqwibuztzvroa 105 30 Another another DT work_xtgybuyxajfdjlqwibuztzvroa 105 31 Family Family NNP work_xtgybuyxajfdjlqwibuztzvroa 105 32 with with IN work_xtgybuyxajfdjlqwibuztzvroa 105 33 Microcephaly Microcephaly NNP work_xtgybuyxajfdjlqwibuztzvroa 105 34 Acknowledgments Acknowledgments NNP work_xtgybuyxajfdjlqwibuztzvroa 105 35 References References NNPS