id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_kxze6g7ikvbkhaxgkxccxbddje	J Amiel	Hirschsprung disease, associated syndromes and genetics: a review	2007	14	.pdf	application/pdf	17549	2762	70	survival of patients uncovered familial transmission of Hirschsprung disease (HSCR).5 In 1974, gene mutations were identified in HSCR patients (fig 1).41 42 Moreover an HSCR patient heterozygote for weak hypomorphic mutations in both RET and EDNRB has recently been (1) RET is the major gene in HSCR with either CDS mutations Mennonite kindred.114 However, these data were not confirmed.156 Hitherto, coding sequence mutations in genes predisposing to HSCR, RET, EDNRB and GDNF, respectively, were Frequency of RET mutations in longand short-segment Hirschsprung disease. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Hirschsprung disease requires both the RET gene and a new 9q31 locus. hypomorphic RET allele in syndromic Hirschsprung disease. Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. syndrome associated with Hirschsprung's disease and neuroblastoma: case of	./cache/work_kxze6g7ikvbkhaxgkxccxbddje.pdf	./txt/work_kxze6g7ikvbkhaxgkxccxbddje.txt