Apr 17, 2007

Genetic factors in congenital diaphragmatic hernia

American Journal of Human Genetics
Ashley M HolderDaryl A Scott


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.

  • References108
  • Citations109


Mentioned in this Paper

NR2F2 gene
Vitamin A
NR2F2 wt Allele
Biochemical Pathway
Morbidity Aspects
Pallister-Killian Syndrome
KDM5A wt Allele
Entire Diaphragm

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

© 2020 Meta ULC. All rights reserved