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Title: Diaphragmatic hernia in Denys-Drash syndrome
Authors: Devriendt, Koenraad ×
Deloof, E
Moerman, Philippe
Legius, Eric
Vanhole, Christine
de Zegher, Francis
Proesmans, Willem
Devlieger, Hugo #
Issue Date: Sep-1995
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:57 issue:1 pages:97-101
Abstract: We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys-Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene (366Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Section Newborn (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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