为什么基因检测对发育障碍患者很重要--一个独特的进行性肌张力过高和舞蹈症病例：VARS2相关障碍

{"title":"为什么基因检测对发育障碍患者很重要--一个独特的进行性肌张力过高和舞蹈症病例：VARS2相关障碍","authors":"Shannon Strader, Marissa Vawter-Lee, Loren Pena, Heather Huxol, Corrie Harris","doi":"10.1002/pmrj.13267","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":20354,"journal":{"name":"PM&R","volume":" ","pages":""},"PeriodicalIF":2.2000,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Why genetic testing is important in patients with developmental disabilities-a unique case of progressive hypertonia and chorea: VARS2-related disorder.\",\"authors\":\"Shannon Strader, Marissa Vawter-Lee, Loren Pena, Heather Huxol, Corrie Harris\",\"doi\":\"10.1002/pmrj.13267\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":20354,\"journal\":{\"name\":\"PM&R\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2024-08-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PM&R\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/pmrj.13267\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"REHABILITATION\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PM&R","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/pmrj.13267","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"REHABILITATION","Score":null,"Total":0}