Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure

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• 作者：J. D. Hald ; L. Folkestad ; T. Harsløf ; A. M. Lund ; M. Duno…
• 关键词：Collagen type 1 ; DXA ; Genotype ; HRpQCT ; Osteogenesis imperfecta
• 刊名：Osteoporosis International
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：27
• 期：11
• 页码：3331-3341
• 全文大小：478 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Orthopedics
  Gynecology
  Endocrinology
  Rheumatology
  
• 出版者：Springer London
• ISSN：1433-2965
• 卷排序：27

文摘

SummaryOsteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well with the underlying biochemical and molecular abnormalities.