{"title":"A rare case of Rodriguez syndrome caused by a SF3B4 gene deletion","authors":"Anupama Chundu","doi":"10.52768/2766-7820/2516","DOIUrl":null,"url":null,"abstract":"The acrofacial dysostoses are a genetically heterogeneous group of inherited disorders characterized by craniofacial and limb abnormalities. Nager and Rodriguez syndromes, posited as distinct subtypes, have recently been described as a phenotypic spectrum associated with haploinsufficiency of the SF3B4 gene.","PeriodicalId":15420,"journal":{"name":"Journal of Clinical Images and Medical Case Reports","volume":"10 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Images and Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.52768/2766-7820/2516","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
The acrofacial dysostoses are a genetically heterogeneous group of inherited disorders characterized by craniofacial and limb abnormalities. Nager and Rodriguez syndromes, posited as distinct subtypes, have recently been described as a phenotypic spectrum associated with haploinsufficiency of the SF3B4 gene.
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