Article
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.
European journal of human genetics : EJHG - 1 Jan 2021
Wang Jiayao, Ahimaz Priyanka R, Hashemifar Somaye, Khlevner Julie, Picoraro Joseph A, Middlesworth William, Elfiky Mahmoud M, Que Jianwen, Shen Yufeng, Chung Wendy K
Abstract excerpt
The various malformations of the aerodigestive tract collectively known as esophageal atresia/tracheoesophageal fistula (EA/TEF) constitute a rare group of birth defects of largely unknown etiology. Previous studies have identified a small number of rare genetic variants causing syndromes associated with EA/TEF. We performed a pilot exome sequencing study of 45 unrelated simplex trios (probands and parents) with...
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