AI Article Synopsis
- Congenital diaphragmatic hernia (CDH) is a significant birth defect occurring in about 1 in 3,000 births, leading to high risks of death and complications.
- Recent research highlights the genetic basis of CDH, identifying potential candidate genes through studies in animal models.
- The review also explores how issues with retinoid signaling and mesenchymal cell function may contribute to the development of CDH.
Article 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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| http://dx.doi.org/10.1159/000322422 | DOI Listing |
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