Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research

ABSTRACT Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or COL1A2. Mutations in at least 18 other genes can also lead to an OI phenotype. As genetic testing is more widely...

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Bibliographic Details
Main Authors: Josephine T Tauer, Marie‐Eve Robinson, Frank Rauch
Format: Article
Language:English
Published: Oxford University Press 2019-08-01
Series:JBMR Plus
Subjects:
Online Access:https://doi.org/10.1002/jbm4.10174