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.
See also reference (FX) in Slovak
Fraserov syndróm
See also reference (FX) in English
Fraser Syndrome
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(1) - MeSH descriptor
predmetové heslo
Počet záznamov: 1
openseadragon
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