Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Hum Genet. 2007 May;80(5):825-45. Epub 2007 Apr 4.

Genetic factors in congenital diaphragmatic hernia.

Author information

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Abstract

Congenital diaphragmatic hernia (CDH) is a relatively common birth defect associated with high mortality and morbidity. Although the exact etiology of most cases of CDH remains unknown, there is a growing body of evidence that genetic factors play an important role in the development of CDH. In this review, we examine key findings that are likely to form the basis for future research in this field. Specific topics include a short overview of normal and abnormal diaphragm development, a discussion of syndromic forms of CDH, a detailed review of chromosomal regions recurrently altered in CDH, a description of the retinoid hypothesis of CDH, and evidence of the roles of specific genes in the development of CDH.

PMID:
17436238
[PubMed - indexed for MEDLINE]
PMCID:
PMC1852742
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Write to the Help Desk