{"title":"一名患有性腺功能减退症的男婴体内位于转录激活结构域的新型 SOX2 框移致病变体。","authors":"Ayano Kimura-Yoshida, Takeshi Sato, Yosuke Ichihashi, Masanori Wasa, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa","doi":"10.1297/cpe.2024-0013","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442697/pdf/","citationCount":"0","resultStr":"{\"title\":\"A novel <i>SOX2</i> frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.\",\"authors\":\"Ayano Kimura-Yoshida, Takeshi Sato, Yosuke Ichihashi, Masanori Wasa, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa\",\"doi\":\"10.1297/cpe.2024-0013\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":10678,\"journal\":{\"name\":\"Clinical Pediatric Endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442697/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Pediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1297/cpe.2024-0013\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/19 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.2024-0013","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/19 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0