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Concept information

Preferred term

Frasier Syndrome  

Type

  • Topical Descriptor

Note

  • do not confuse with FRASER SYNDROME

Scope note

  • 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.

History note

  • 2006; use DENYS-DRASH SYNDROME 2002-2005

In other languages

URI

http://www.yso.fi/onto/mesh/D052159

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