{"title":"ABCB11中的一个新变体(p.Leu1054Arg)表现为伴有先天性甲状腺功能减退症的进行性家族性肝内胆汁淤积症(PFIC)。","authors":"Saurabh Agarwal,Nikhil Rajvanshi,Jagdish Prasad Goyal,Prawin Kumar","doi":"10.1007/s12098-024-05271-2","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":22491,"journal":{"name":"The Indian Journal of Pediatrics","volume":"11 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.\",\"authors\":\"Saurabh Agarwal,Nikhil Rajvanshi,Jagdish Prasad Goyal,Prawin Kumar\",\"doi\":\"10.1007/s12098-024-05271-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":22491,\"journal\":{\"name\":\"The Indian Journal of Pediatrics\",\"volume\":\"11 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Indian Journal of Pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12098-024-05271-2\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Indian Journal of Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12098-024-05271-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}