Article
Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jan 2005
Tagliarini E B, Assumpção J G, Scolfaro M R, Mello M P de, Maciel-Guerra A T, Guerra Júnior G, Hackel C
Abstract excerpt
The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role in abnormal...
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