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 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

作者机构：Sichuan Provincial Key Laboratory for Human Disease Gene StudyCenter for Medical GeneticsSichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduSichuan 610072China Natural Products Research CenterInstitute of Chengdu BiologySichuan Translational Medicine HospitalChinese Academy of SciencesChengduSichuan 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026)Sichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalChengduSichuan 610072China Department of GeneticsAravind Medical Research FoundationAravind Eye HospitalMaduraiIndia Department of OphthalmologyXinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineShanghai 200092China Henan Eye InstituteHenan Eye HospitalPeople’s Hospital of Zhengzhou UniversityHenan Provincial People’s HospitalZhengzhouHenan 450003China 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2022年第49卷第6期

页      面：590-594页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

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) 

主　　题：familial vitreoretinopathy 

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).