Article
An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.
The Journal of clinical endocrinology and metabolism - 1 Jun 2002
Melo Karla F S, Martin Regina M, Costa Elaine M F, Carvalho Filomena M, Jorge Alexander A, Arnhold Ivo J P, Mendonca Berenice B
Abstract excerpt
The Wilms' tumor gene (WT1) encodes a zinc-finger transcription factor involved in the development of the kidneys and gonads and their subsequent normal function. Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and mental retardation), Denys-Drash syndrome, and Frasier syndrome (FS). Constitutional heterozygous mutations of the WT1 gene,...
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