Article
X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.
Scientific reports - 29 Jan 2016
Xiao Yangyan, Liu Xiao, Tang Luosheng, Wang Xia, Coursey Terry G, Coursy Terry, Guo Xiaojian, Li Zhuo
Abstract excerpt
X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the...
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