{"title":"呈假性Bartter症候群的肾低异常形成的婴儿:用新一代测序仪鉴定出PAX2变异,诊断为肾缺乏症的1女婴病例","authors":"Ken Hatae, Yumi Keida, Maiko Hinokiyama, Rie Kuroki, Mari Kurokawa, Naoya Morisada, Kandai Nozu, Kazumoto Iijima","doi":"10.3165/JJPN.CR.2016.0105","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":325052,"journal":{"name":"Nihon Shoni Jinzobyo Gakkai Zasshi","volume":"46 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2017-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"偽性Bartter 症候群を呈した腎低異形成の乳児:次世代シークエンサーでPAX2 変異が同定され,腎コロボーマ症候群と診断した1 女児例\",\"authors\":\"Ken Hatae, Yumi Keida, Maiko Hinokiyama, Rie Kuroki, Mari Kurokawa, Naoya Morisada, Kandai Nozu, Kazumoto Iijima\",\"doi\":\"10.3165/JJPN.CR.2016.0105\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":325052,\"journal\":{\"name\":\"Nihon Shoni Jinzobyo Gakkai Zasshi\",\"volume\":\"46 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-01-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nihon Shoni Jinzobyo Gakkai Zasshi\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3165/JJPN.CR.2016.0105\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nihon Shoni Jinzobyo Gakkai Zasshi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3165/JJPN.CR.2016.0105","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1