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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Detalhes bibliográficos
Publicado no:Bone Rep
Main Authors: Campanini, E.H., Baker, D., Arundel, P., Bishop, N.J., Offiah, A.C., Keigwin, S., Cadden, S., Dall'Ara, E., Nicolaou, N., Giles, S., Fernandes, J.A., Balasubramanian, M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8264105/
https://ncbi.nlm.nih.gov/pubmed/34277895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2021.101102
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