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Osteogenesis imperfecta—pathophysiology and therapeutic options

Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms. Here, we present an overview of the genetic heterogeneity and pathophysiological backgro...

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Detalles Bibliográficos
Autores principales: Etich, Julia, Leßmeier, Lennart, Rehberg, Mirko, Sill, Helge, Zaucke, Frank, Netzer, Christian, Semler, Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427672/
https://www.ncbi.nlm.nih.gov/pubmed/32797291
http://dx.doi.org/10.1186/s40348-020-00101-9