Volume 57, Issue 6 pp. 688-693
Invited Review

Chromosome Aberrations and Gene Mutations in Patients With Esophageal Atresia

Damian Bednarczyk

Damian Bednarczyk

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland

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Maria M. Sasiadek

Maria M. Sasiadek

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland

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Robert Smigiel

Corresponding Author

Robert Smigiel

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: [email protected]).Search for more papers by this author
First published: 01 December 2013
Citations: 17

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The authors report no conflicts of interest.

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.

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