WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin

@article{Nordenskjld1994WT1MI,
  title={WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin},
  author={Agneta Nordenskj{\"o}ld and Eitan Friedman and Maria Anvret},
  journal={Human Genetics},
  year={1994},
  volume={93},
  pages={115-120}
}
Denys-Drash syndrome (DDS) is characterized by early onset nephropathy, pseudohermaphroditism in males and a high risk for developing Wilms' tumour (WT). The exact cause of DDS is unknown but germline mutations in the Wilms' tumour suppressor gene (WT1) have recently been described in the majority of DDS patients studied. These mutations occur de novo and are clustered around the zinc finger (ZF) coding exons of the WT1 gene. Analysis of exons 2–10 of the WT1 gene in constitutional DNA from… CONTINUE READING

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