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Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia

Authors
  • Brady, Paul D.
  • Srisupundit, Kasemsri
  • Devriendt, Koenraad
  • Fryns, Jean-Pierre
  • Deprest, Jan A.
  • Vermeesch, Joris R.
Type
Published Article
Journal
Fetal Diagnosis and Therapy
Publisher
S. Karger AG
Publication Date
Dec 11, 2010
Volume
29
Issue
1
Pages
25–39
Identifiers
DOI: 10.1159/000322422
PMID: 21150176
Source
Karger
Keywords
License
Green
External links

Abstract

Congenital diaphragmatic hernia (CDH) is a birth defect affecting around 1 in 3,000 births and is associated with high mortality and morbidity. It has become increasingly apparent that genetic factors underlie many forms of CDH. We review the recent developments in the area of the genetics of CDH, including potential candidate genes supported by evidence from animal models. We also discuss the possible role in the pathogenesis of CDH of defective retinoid signalling and abnormal mesenchymal cell function.

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