High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1

High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1

Objectives: Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; extra-skeletal features in OI include blue sclerae, dentinogenesis imperfecta, skin laxity and joint hyper-extensibility. Most patients with OI are thought to have a low bone mass but contra...

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Bibliographic Details
Main Authors: E.H. Campanini, D. Baker, P. Arundel, N.J. Bishop, A.C. Offiah, S. Keigwin, S. Cadden, E. Dall'Ara, N. Nicolaou, S. Giles, J.A. Fernandes, M. Balasubramanian
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Bone Reports
Subjects:
High bone mineral density
Bone fragility
Fractures
BMP1
C-propeptide
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187221003582

Internet

http://www.sciencedirect.com/science/article/pii/S2352187221003582

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