Recent developments in the genetic factors underlying congenital diaphragmatic hernia

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, i...

Full description

Saved in:
Bibliographic Details
Main Authors: Paul D. Brady, Kasemsri Srisupundit, Koenraad Devriendt, Jean Pierre Fryns, Jan A. Deprest, Joris R. Vermeesch
Format: Journal
Published: 2018
Subjects:
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79951800368&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/50275
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University
Description
Summary: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.