{"title":"Discovery of a Novel Mutation in the Excision Repair Cross-Complementing 1 Gene in a Teenage Patient with Cerebro-Oculo-Facio-Skeletal Syndrome","authors":"Rachel A. Nyenhuis, J. Gibson","doi":"10.1542/PEDS.147.3_MEETINGABSTRACT.863","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":446959,"journal":{"name":"Section on Pediatric Trainees Program","volume":"64 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Section on Pediatric Trainees Program","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1542/PEDS.147.3_MEETINGABSTRACT.863","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}