Article
Ocular albinism with infertility and late-onset sensorineural hearing loss.
American journal of medical genetics. Part A - 1 Jul 2018
Fabian-Jessing Bjørn K, Vestergaard Else Marie, Plomp Astrid S, Bergen Arthur A, Dreschler Wouter A, Duno Morten, Winiarska Beata S, Neumann Linda, Gaihede Michael, Vorum Henrik, Petersen Michael B
Abstract excerpt
Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway. OA1 associated with late-onset sensorineural hearing loss was previously reported in a single family and hypothesized to be caused by a contiguous gene deletion syndrome involving GPR143 and the adjacent gene, TBL1X. Here, we...
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