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Frasierov syndróm

  1. Subject h.Frasierov syndróm
    Subject h.Frasier Syndrome
    Scope note in EnglishA 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.
    See also reference (FX) in Slovak Fraserov syndróm
    See also reference (FX) in English Fraser Syndrome
    Links (1) - MeSH descriptor
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Number of the records: 1  

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