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.
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| "Frasier syndrome is characterized by slowly progressive nephropathy, male pseudohermaphroditism, streak gonad, and high risk of gonadoblastoma development." | ( Hirai, H; Michigami, T; Miyoshi, Y; Mushiake, S; Nakajima, S; Namba, N; Ozono, K; Santo, Y; Tachikawa, K, 2006) |
| "Frasier syndrome is characterized by progressive glomerulopathy that is unresponsive to corticosteroids, male pseudohermaphroditism, and an increased risk of genitourinary tumors." | ( Agarwala, S; Bagga, A; Gulati, A; Hari, P; Sharma, A; Sharma, S; Sinha, A, 2010) |
| "Frasier syndrome is a rare genetic disorder caused by intronic mutations in WT1, and is characterized by progressive glomerulopathy, a 46,XY disorder of sex development, and an increased risk of gonadoblastoma." | ( Chiba, Y; Inoue, CN, 2019) |