Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.

doi:10.1007/BF00214195

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Article

Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.

Human genetics - 1 Jul 1995

Nordenskjöld A, Fricke G, Anvret M

Abstract excerpt

The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether...

Topics

DNA
Exons
Female
Gonadal Dysgenesis, 46,XY
Humans
Mutation
Polymerase Chain Reaction

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