A. Asseri, Ahmad Alzoani, Mohammed Almahdi, Hussein Almahdi, Nouf Almushayt, Noha Alyazidi, Basmah M Al Mufarrih
{"title":"Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra‐Skeletal Organ Involvement","authors":"A. Asseri, Ahmad Alzoani, Mohammed Almahdi, Hussein Almahdi, Nouf Almushayt, Noha Alyazidi, Basmah M Al Mufarrih","doi":"10.2147/imcrj.s447466","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":508214,"journal":{"name":"International Medical Case Reports Journal","volume":"32 2","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Medical Case Reports Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/imcrj.s447466","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}