Article
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.
Human molecular genetics - 1 Aug 1992
Baird P N, Santos A, Groves N, Jadresic L, Cowell J K
Abstract excerpt
The Denys-Drash syndrome is characterised by a typical nephropathy, genital abnormalities and also predisposes to the development of Wilms' tumor. These patients eventually go into end stage renal failure. A candidate Wilms' tumor gene, WT1, from the 11p13 chromosome region has recently been cloned. We have analysed the DNA sequence in constitutional cells from eight patients and have shown heterozygous mutations...
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