A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
{"title":"A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review","authors":"Fatemeh Shakarami, Zahra Nouri, Hossein Khanahmad, Mohamadreza Ghazavi, Mohammad Amin Tabatabaiefar","doi":"10.1007/s12041-023-01441-x","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"21 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"the Korean Journal of Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12041-023-01441-x","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}