Article
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.
Cell - 18 Oct 1991
Pelletier J, Bruening W, Kashtan C E, Mauer S M, Manivel J C, Striegel J E, Houghton D C, Junien C, Habib R, Fouser L
Abstract excerpt
Denys-Drash syndrome is a rare human condition in which severe urogenital aberrations result in renal failure, pseudohermaphroditism, and Wilms' tumor (nephroblastoma). To investigate its possible role, we have analyzed the coding exons of the Wilms' tumor suppressor gene (WT1) for germline mutat...
Topics
- Acute Kidney Injury
- Amino Acid Sequence
- Base Sequence
- Cell Line, Transformed
- DNA-Binding Proteins
- Disorders of Sex Development
- Exons
- Female
- Genes, Wilms Tumor
- Humans
- Molecular Sequence Data
- Mutagenesis
- Mutation
- Phenotype