Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects

Summary 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...

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Veröffentlicht in:	Osteoporosis international 2022-06, Vol.33 (6), p.1373-1384
Hauptverfasser:	Yang, Lin, Liu, Bo, Dong, Xinran, Wu, Jing, Sun, Chengjun, Xi, Li, Cheng, Ruoqian, Wu, Bingbing, Wang, Huijun, Tong, Shiyuan, Wang, Dahui, Luo, Feihong
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Classification Collagen (type I) Collagen Type I - genetics Collagen Type I, alpha 1 Chain Endocrinology Genes Genetic disorders Humans Medicine Medicine & Public Health Mutation Original Original Article Orthopedics Osteogenesis Osteogenesis imperfecta Osteogenesis Imperfecta - diagnosis Osteogenesis Imperfecta - genetics Patients Point mutation Prediction models Rheumatology
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