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    Curr Gastroenterol Rep. 2010 Jun;12(3):215-22. doi: 10.1007/s11894-010-0108-1.

    Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".

    Source

    Department of Pediatric Surgery, Erasmus MC-Sophia Children's Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands. e.m.dejong@erasmusmc.nl

    Abstract

    Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.

    PMID:
    20425471
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2874026
    Free PMC Article

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