Article
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.
Scientific reports - 10 Jul 2015
Han Ruifang, Wang Xiaojuan, Wang Dongjie, Wang Liming, Yuan Zhongfang, Ying Ming, Li Ningdong
Abstract excerpt
The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in...
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