Frasier Syndrome

Frasiers syndrom

Engelsk definition

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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Syndrome, Frasier