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

• Published in: The journal of clinical endocrinology and metabolism Vol. 87; no. 6; pp. 2500 - 2505
• Main Authors: Melo, Karla F. S, Martin, Regina M, Costa, Elaine M. F, Carvalho, Filomena M, Jorge, Alexander A, Arnhold, Ivo J. P, Mendonca, Berenice B
• Format: Journal Article
• Language: English
• Published: Endocrine Society 01.06.2002

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 retarda...