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Title: Recent developments in the genetic factors underlying congenital diaphragmatic hernia
Authors: Paul D. Brady
Kasemsri Srisupundit
Koenraad Devriendt
Jean Pierre Fryns
Jan A. Deprest
Joris R. Vermeesch
Keywords: Medicine
Issue Date: 1-Feb-2011
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. Copyright © 2010 S. Karger AG, Basel.
ISSN: 10153837
Appears in Collections:CMUL: Journal Articles

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