Article
Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene.
Nephron - 1 Jul 2002
Chak Wai Leung, To Ka Fai, Cheng Yuk Lun, Tsui Kan Ming, Lo Kwok Lai, Tong Hung Man, Lai Fernand Mac-Moune, Wong Francis Kin Ming, Choi Koon Shing, Chau Ka Foon, Li Chun Sang
Abstract excerpt
Frasier syndrome is a rare human developmental disorder classically affecting 46,XY females and leading to male pseudohermaphroditism and chronic renal failure. We describe a family with both 46,XX and 46,XY females affected by the syndrome due to WT1 splice site mutations. The diagnosis of Frasier syndrome in 1 of the children led to the discovery of the syndrome in 2 other siblings, of whom 1 is asymptomatic....
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