Skip Navigation LinksHome > December 2013 - Volume 57 - Issue 6 > Chromosome Aberrations and Gene Mutations in Patients With E...
Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0b013e3182a373dc
Invited Review

Chromosome Aberrations and Gene Mutations in Patients With Esophageal Atresia

Bednarczyk, Damian; Sasiadek, Maria M.; Smigiel, Robert

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ABSTRACT: Esophageal atresia (EA) is one of the most frequent congenital malformations of the gastrointestinal tract. Many genetic alterations in patients with EA have been described in the literature. It is thought that the etiology of EA is heterogeneous. This review of the literature provides detailed information about chromosomal aberrations, gene mutations, and clinical features of neonates with EA, and serves as an excellent source to compare newly diagnosed patients with those described in the literature.

© 2013 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,


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