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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264105/ https://www.ncbi.nlm.nih.gov/pubmed/34277895 http://dx.doi.org/10.1016/j.bonr.2021.101102

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