id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_seorv76asvbfzbdykrqsobtgea	Jia-Woei Hou	A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan	2015	3	.pdf	application/pdf	1224	126	47	A shared founder mutation underlies lethal a Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan facial features including hypertelorism, short, downslanting palpebral fissures, small, pinched nose, posteriorly rotated and low-set ears, micrognathia, and mouth Department of Pediatrics, Cathay General Hospital, 280 Sec 4 Jen-Ai Road, Taipei 106, Taiwan. mutations were observed in LMNA, while a diseasecausing homozygous stop codon TAA on exon 6 (c.715 (primary laminopathy) or, more frequently, recessive mutations of the ZMPSTE24 (secondary laminopathy) genes. to share a common origin, the founder mutation noted in Figure 1 (A) Patient 6 shows very tight and rigid skin with Patient 8 showing a homozygous stop codon TAA over the exon Lethal restrictive dermopathy in Taiwan 1019 mutation in the ZMPSTE24 gene. A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan	./cache/work_seorv76asvbfzbdykrqsobtgea.pdf	./txt/work_seorv76asvbfzbdykrqsobtgea.txt