Article
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.
Human molecular genetics - 1 Mar 1993
Little M H, Williamson K A, Mannens M, Kelsey A, Gosden C, Hastie N D, van Heyningen V
Abstract excerpt
The triad of nephropathy, partial gonadal dysgenesis and Wilms' tumour (WT) is known as Denys-Drash syndrome (DDS). The WT predisposition gene WT1, which plays a vital role in both genital and renal development, is known to be mutated in DDS patients. The WT1 mutations in these patients are const...
Topics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Genes, Wilms Tumor
- Gonadal Dysgenesis
- Humans
- Kidney Diseases
- Kidney Neoplasms
- Male
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Pregnancy
- Syndrome