{"title":"Osteogenesis Imperfecta","authors":"Roger Smith","doi":"10.1016/S0307-742X(21)00574-9","DOIUrl":null,"url":null,"abstract":"<div><p>It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the a chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met. Future research in this disease therefore needs to be clinical as well as biochemical.</p></div>","PeriodicalId":77693,"journal":{"name":"Clinics in rheumatic diseases","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1986-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinics in rheumatic diseases","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0307742X21005749","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the a chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met. Future research in this disease therefore needs to be clinical as well as biochemical.
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