Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.

@article{Little1993EvidenceTW,
  title={Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.},
  author={Melissa H. Little and Kathleen A. Williamson and Marcel Mannens and Anna Kelsey and Christine M. Gosden and Nicholas D Hastie and Veronica van Heyningen},
  journal={Human molecular genetics},
  year={1993},
  volume={2 3},
  pages={
          259-64
        }
}
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 constitutional point mutations clustered in the zinc finger (ZF) encoding exons, particularly the exons encoding ZF2 and ZF3. The predicted functional alteration in WT1 is thought to underlie DDS aetiology… CONTINUE READING

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