在一名婴儿体内发现的 PPP2R1A 基因新变异引发神经发育异常

{"title":"在一名婴儿体内发现的 PPP2R1A 基因新变异引发神经发育异常","authors":"Yanghui Zhang, Haoxian Li, Hua Wang, Zhengjun Jia, Hui Xi, Xiao Mao","doi":"10.1007/s12264-019-00430-4","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":89222,"journal":{"name":"Procedia, social and behavioral sciences","volume":"205 1","pages":"179-182"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977796/pdf/","citationCount":"0","resultStr":"{\"title\":\"A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities.\",\"authors\":\"Yanghui Zhang, Haoxian Li, Hua Wang, Zhengjun Jia, Hui Xi, Xiao Mao\",\"doi\":\"10.1007/s12264-019-00430-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":89222,\"journal\":{\"name\":\"Procedia, social and behavioral sciences\",\"volume\":\"205 1\",\"pages\":\"179-182\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977796/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Procedia, social and behavioral sciences\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12264-019-00430-4\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2019/9/17 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Procedia, social and behavioral sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12264-019-00430-4","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2019/9/17 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}