Recent developments in the genetic factors underlying congenital diaphragmatic hernia
PD Brady, K Srisupundit, K Devriendt… - Fetal diagnosis and …, 2011 - karger.com
Fetal diagnosis and therapy, 2011•karger.com
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.
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.
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.
Karger