Article
Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.
Genetic testing and molecular biomarkers - 1 Feb 2020
Zhu Xiong, Sun Kuanxiang, Huang Lulin, Ma Shi, Hao Fang, Yang Zhenglin, Sundaresan Periasamy, Zhu Xianjun
Abstract excerpt
Background: Familial exudative vitreoretinopathy (FEVR) is an inheritable retinal vascular disease, which often leads to severe vision loss and blindness in children. However, reported mutations can only account for 50-60% of patients with FEVR. The purpose of this study was to identify novel frizzled class receptor 4 (FZD4) and Norrin cystine knot growth factor NDP (NDP) mutations in a cohort of Indian patients...
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