Title: Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia
Authors: Brady, Paul
Srisupundit, Kasemsri
Devriendt, Koenraad
Fryns, Jean-Pierre
Deprest, Jan
Vermeesch, Joris # ×
Issue Date: Jan-2011
Publisher: S. Karger
Series Title: Fetal Diagnosis and Therapy vol:29 issue:1 pages:25-39
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.
ISSN: 1015-3837
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
Foetal Medicine Section (-)
× corresponding author
# (joint) last author

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