Article
Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.
Investigative ophthalmology & visual science - 1 Aug 2015
Seo Soo Hyun, Yu Young Suk, Park Sung Wook, Kim Jeong Hun, Kim Hyun Kyung, Cho Sung Im, Park Hyunwoong, Lee Seung Jun, Seong Moon-Woo, Park Sung Sup, Kim Ji Yeon
Abstract excerpt
PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by the failure of peripheral retinal vascularization. The genes FZD4, LRP5, and TSPAN12 are known to be associated with the autosomal inheritance form of FEVR. In this study, we performed mutation screening for FZD4, LRP5, and TSPAN12 in patients with clinical diagnosis of FEVR. In patients with no mutation detected,...
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