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 clon...
Topics
- Base Sequence
- Child
- DNA Mutational Analysis
- DNA, Neoplasm
- Exons
- Female
- Genes, Wilms Tumor
- Genotype
- Humans
- Kidney Neoplasms
- Male
- Molecular Sequence Data
- Phenotype
- Polymorphism, Genetic
- Syndrome
- Urogenital Abnormalities
- Wilms Tumor