Last update 08 May 2025

Frasier Syndrome

Basic Info

Synonyms
FRASIER SYNDROME, Frasier Syndrome, Frasier syndrome
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Introduction
A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

Analysis

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