T. Giacomini, Marcello Scala, Giulia Nobile, M. Severino, D. Tortora, L. Nobili, A. Accogli, A. Torella, V. Capra, M. Mancardi, V. Nigro
{"title":"\n De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum","authors":"T. Giacomini, Marcello Scala, Giulia Nobile, M. Severino, D. Tortora, L. Nobili, A. Accogli, A. Torella, V. Capra, M. Mancardi, V. Nigro","doi":"10.1016/j.braindev.2022.04.002","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":9193,"journal":{"name":"Brain and Development","volume":"15 1","pages":"480-485"},"PeriodicalIF":0.0000,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain and Development","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.braindev.2022.04.002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}