Article
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Jun 2022
Yang Lin, Liu Bo, Dong Xinran, Wu Jing, Sun Chengjun, Xi Li, Cheng Ruoqian, Wu Bingbing, Wang Huijun, Tong Shiyuan, Wang Dahui, Luo Feihong
Abstract excerpt
Osteogenesis imperfecta (OI) is a genetic disease with an estimated prevalence of 1 in 13,500 and 1 in 9700. The classification into subtypes of OI is important for prognosis and management. In this study, we established a clinical severity prediction model depending on multiple features of variants in COL1A1/2 genes. INTRODUCTION: Ninety percent of OI cases are caused by pathogenic variants in the COL1A1/COL1A2...
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