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

Summary Osteogenesis 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 correlat...

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Veröffentlicht in:	Osteoporosis international 2016-11, Vol.27 (11), p.3331-3341
Hauptverfasser:	Hald, J. D., Folkestad, L., Harsløf, T., Lund, A. M., Duno, M., Jensen, J. B., Neghabat, S., Brixen, K., Langdahl, B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Anthropometry Bone Density Bone mass Collagen Collagen (type I) Collagen Type I - genetics Cross-Sectional Studies Defects Dual energy X-ray absorptiometry Endocrinology Female Fractures Gel electrophoresis Genotype Genotypes Humans Male Medicine Medicine & Public Health Middle Aged Mutation Original Article Orthopedics Osteogenesis Osteogenesis imperfecta Osteogenesis Imperfecta - genetics Osteoporosis Phenotype Phenotypes Rheumatology Skeleton Sodium lauryl sulfate Spine Young Adult
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