Article
The mutational spectrum of WT1 in male infertility.
The Journal of urology - 1 May 2015
Seabra Catarina M, Quental Sofia, Lima Ana C, Carvalho Filipa, Gonçalves João, Fernandes Susana, Pereira Iris, Silva Júlia, Marques Patrícia I, Sousa Mário, Barros Alberto, Seixas Susana, Amorim António, Lopes Alexandra M
Abstract excerpt
PURPOSE: We evaluated the impact of WT1 mutations in isolated severe spermatogenic impairment in a population of European ancestry. WT1 was first identified as the gene responsible for Wilms tumor. It was later associated with a plethora of clinical phenotypes often accompanied by urogenital defects and male infertility. The recent finding of WT1 missense mutations in Chinese azoospermic males without major...
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