Challenges of disease severity prediction in an MPS II asymptomatic individual with a novel IDS variant: A unique NBS case with familial mosaicism

{"title":"Challenges of disease severity prediction in an MPS II asymptomatic individual with a novel IDS variant: A unique NBS case with familial mosaicism","authors":"Kristin Clinard, Nitya Yerraguntla, Lindsay Torrice, Sarah Bennick, Leigh Anne Weisenfeld, Elizabeth Jalazo, Joseph Muenzer","doi":"10.1016/j.ymgme.2024.108686","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108686"},"PeriodicalIF":3.7000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular genetics and metabolism","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1096719224005705","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}