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Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome

✍ Scribed by Swiatecka-Urban, Agnieszka; Mokrzycki, Michele H.; Kaskel, Frederick; Da Silva, Francis; Denamur, E.


Book ID
113045795
Publisher
Springer
Year
2001
Tongue
English
Weight
33 KB
Volume
16
Category
Article
ISSN
0931-041X

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WT1 mutations in patients with Denys-Dra
✍ Agneta NordenskjΓΆld; Eitan Friedman; Maria Anvret πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 803 KB

Denys-Drash syndrome (DDS) is characterized by early onset nephropathy, pseudohermaphroditism in males and a high risk for developing Wilm's tumour (WT). The exact cause of DDS is unknown but germline mutations in the Wilm's tumour suppressor gene (WT1) have recently been described in the majority o