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Title: Identification of dosage sensitive genes in foetuses referred with severe isolated congenital diaphragmatic hernia
Authors: Brady, Paul
DeKoninck, Philip
Fryns, Jean-Pierre
Devriendt, Koenraad
Deprest, Jan
Vermeesch, Joris # ×
Issue Date: Dec-2013
Publisher: John Wiley & Sons
Series Title: Prenatal Diagnosis vol:33 issue:13 pages:1283-92
Article number: 10.1002/pd.4244
Abstract: Congenital Diaphragmatic Hernia (CDH) is a foetal abnormality affecting diaphragm and lung development with a high mortality rate despite advances in foetal and neonatal therapy. CDH may occur either as an isolated defect or in syndromic form for which the prognosis is worse. Although conventional karyotyping and more recently chromosomal microarrays support a substantial role for genetic factors, causal genes responsible for isolated CDH remain elusive. We propose that chromosomal microarray analysis will identify CNVs associated with isolated CDH.
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
Organ Systems (+)
× corresponding author
# (joint) last author

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