Article
Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.
Clinical genetics - 1 Apr 2018
Gurbuz F, Desai S, Diao F, Turkkahraman D, Wranitz F, Wood-Trageser M, Shin Y-H, Kotan L D, Jiang H, Witchel S, Gurtunca N, Yatsenko S, Mysliwec D, Topaloglu K, Rajkovic A
Abstract excerpt
Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic variants have been largely reported in the Middle Eastern populations, but the incidence in American families is rare and animal models are lacking. Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2...
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