Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy  

作　　者：Shujin Li Mu Yang Yunqi He Xiaoyan Jiang Rulian Zhao Wenjing Liu Lulin Huang Yi Shi Xiao Li Kuanxiang Sun Yeming Yang Periasamy Sundaresan Peiquan Zhao Zhenglin Yang Xianjun Zhu 

机构地区：[1]Sichuan Provincial Key Laboratory for Human Disease Gene Study,Center for Medical Genetics,Sichuan Provincial People’s Hospital,University of Electronic Science and Technology of China,Chengdu,Sichuan 610072,China [2]Natural Products Research Center,Institute of Chengdu Biology,Sichuan Translational Medicine Hospital,Chinese Academy of Sciences,Chengdu,Sichuan 610072,China [3]Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026),Sichuan Academy of Medical Sciences&Sichuan Provincial People’s Hospital,Chengdu,Sichuan 610072,China [4]Department of Genetics,Aravind Medical Research Foundation,Aravind Eye Hospital,Madurai,India [5]Department of Ophthalmology,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China [6]Henan Eye Institute,Henan Eye Hospital,People’s Hospital of Zhengzhou University,Henan Provincial People’s Hospital,Zhengzhou,Henan 450003,China

出　　处：《Journal of Genetics and Genomics》2022年第6期590-594,共5页遗传学报（英文版）

基　　金：supported by the National Natural Science Foundation of China(81970841 and 81770950 to X.Zhu,81790643 and 82121003 to Z.Yang,82000913 to S.Li,82101153 to M.Yang);the CAMS Innovation Fund for Medical Sciences(2019-12M-5-032 to Z.Yang);the Department of Science and Technology of Sichuan Province(2021YFS0386 to X.Zhu,2022YFS0598 to S.Li,2021YFS0369 and 2021JDGD0036 to Z.Yang);The Program of Science and Technology International Cooperation Project of Qinghai province(2022-HZ-814 to X.Zhu);the fund for Sichuan Provincial People’s Hospital(2021QN01 to M.Yang);the Department of Chengdu Science and Technology(2021-YF05-01316-SN to X.Zhu)。

摘　　要：Familial exudative vitreoretinopathy(FEVR),an inherited eye disease,is characterized by abnormal retinal vascular development,such as neovascularization,vitreous hemorrhage,exudation,and retinal detachment(Criswick and Schepens,1969;Robitaille et al.,2002).FEVR is inherited as autosomal dominant,autosomal recessive,and X-linked patterns(de Crecchio et al.,1998).

关 键 词：FAMILIAL VITREORETINOPATHY 

分 类 号：R774.1[医药卫生—眼科]