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Chromosome Aberrations and Gene Mutations in Patients With Esophageal Atresia

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

Journal of Pediatric Gastroenterology & Nutrition: December 2013 - Volume 57 - Issue 6 - p 688–693
doi: 10.1097/MPG.0b013e3182a373dc
Invited Review

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.

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.

Address correspondence and reprint requests to Robert Smigiel, MD, PhD, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland (e-mail:

Received 23 April, 2013

Accepted 27 June, 2013

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The authors report no conflicts of interest.

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