Diaphragmatic hernia in Denys-Drash syndrome
Journal Article
·
· American Journal of Medical Genetics
- Univ. Hospital, Leuven (Belgium); and others
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 ({sup 366} Arg 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 diphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. 21 refs., 4 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 99096
- Journal Information:
- American Journal of Medical Genetics, Vol. 57, Issue 1; Other Information: PBD: 22 May 1995
- Country of Publication:
- United States
- Language:
- English
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