Article
A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.
Human mutation - 1 Apr 2002
Heathcott Rosemary W, Morison Ian M, Gubler Marie Claire, Corbett Robin, Reeve Anthony E
Abstract excerpt
The gene WT1 is required for the normal development and function of the urogenital tract. Constitutional mutations are associated with familial Wilms tumor and syndromes such as Denys-Drash syndrome (DDS) characterized by nephropathy, genital anomalies and often a predisposition to Wilms tumor. We report a case of constitutional WT1 mutation in an XX female with multifocal Wilms tumor but no genital anomalies or...
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