{"title":"中国家族性渗出性玻璃体视网膜病变相关FZD4基因新变异的鉴定","authors":"Huijuan Xu, Shanshan Zhang, Lulin Huang, Peiquan Zhao, Xiang Zhang, Zhenglin Yang, Lin Zhang","doi":"10.1111/ceo.13690","DOIUrl":null,"url":null,"abstract":"Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe hereditary retinal disease characterized by incomplete retinal vascular development and pathological neovascularization. It has been reported that variants in nine genes are associated with FEVR, but they can only explain approximately 50% of FEVR patients, suggesting that other FEVR‐associated variants or genes remain to be discovered.","PeriodicalId":15372,"journal":{"name":"Journal of Clinical & Experimental Ophthalmology","volume":"1967 1","pages":"356 - 365"},"PeriodicalIF":0.0000,"publicationDate":"2019-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families\",\"authors\":\"Huijuan Xu, Shanshan Zhang, Lulin Huang, Peiquan Zhao, Xiang Zhang, Zhenglin Yang, Lin Zhang\",\"doi\":\"10.1111/ceo.13690\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe hereditary retinal disease characterized by incomplete retinal vascular development and pathological neovascularization. It has been reported that variants in nine genes are associated with FEVR, but they can only explain approximately 50% of FEVR patients, suggesting that other FEVR‐associated variants or genes remain to be discovered.\",\"PeriodicalId\":15372,\"journal\":{\"name\":\"Journal of Clinical & Experimental Ophthalmology\",\"volume\":\"1967 1\",\"pages\":\"356 - 365\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-11-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical & Experimental Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1111/ceo.13690\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical & Experimental Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/ceo.13690","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families
Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe hereditary retinal disease characterized by incomplete retinal vascular development and pathological neovascularization. It has been reported that variants in nine genes are associated with FEVR, but they can only explain approximately 50% of FEVR patients, suggesting that other FEVR‐associated variants or genes remain to be discovered.
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