Frasier Syndrome
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.
Year introduced: 2006
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Tree Number(s): C12.050.351.875.253.096.624, C12.050.351.968.419.780.750.500.500, C12.200.706.316.096.624, C12.200.777.419.780.750.500.500, C12.800.316.096.624, C12.950.419.780.750.500.500, C16.131.939.316.096.624, C16.320.306, C19.391.119.096.624, C23.550.291.500.906.500.500
MeSH Unique ID: D052159
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