一个新的PHEX突变病例随访诊断为x连锁低磷血症佝偻病

{"title":"一个新的PHEX突变病例随访诊断为x连锁低磷血症佝偻病","authors":"Özgecan Demirbaş, E. Eren, Yasemin Denkboy Öngen, Ş. Özemri Sağ, H. Gürkan, S. Temel","doi":"10.4274/jcp.2022.83435","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":41880,"journal":{"name":"Guncel Pediatri-Journal of Current Pediatrics","volume":" ","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets\",\"authors\":\"Özgecan Demirbaş, E. Eren, Yasemin Denkboy Öngen, Ş. Özemri Sağ, H. Gürkan, S. Temel\",\"doi\":\"10.4274/jcp.2022.83435\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":41880,\"journal\":{\"name\":\"Guncel Pediatri-Journal of Current Pediatrics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2023-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Guncel Pediatri-Journal of Current Pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4274/jcp.2022.83435\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Guncel Pediatri-Journal of Current Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/jcp.2022.83435","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}