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Osteogenesis imperfecta—pathophysiology and therapeutic options

14 Aug 2020

Abstract excerpt

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 background of OI as well as OI-related bone fragility disorders and highlight current therapeutic options.The most common...

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PMID: 32797291
DOI: 10.1186/s40348-020-00101-9

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