title: Recent developments in the genetic factors underlying congenital diaphragmatic hernia.
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.
authors.affiliation: Centre for Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Paul D
authors.initials: PD
authors.lastname: Brady
authors.forename: Kasemsri
authors.initials: K
authors.lastname: Srisupundit
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Jan A
authors.initials: JA
authors.lastname: Deprest
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
mesh_terms: D000818:Animals; D003964:Diaphragm / Q000196:embryology; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental; D006548:Hernia, Diaphragmatic / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008168:Lung / Q000196:embryology; D051379:Mice; D008957:Models, Genetic; D010537:Peritoneum / Q000002:abnormalities / Q000196:embryology; D012176:Retinoids / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D012176:Retinoids