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Management of Endocrine Disease: Osteogenesis imperfecta: an update on clinical features and therapies

3 Jul 2020

Abstract excerpt

Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within the collagen biosynthesis pathway or are involved in osteoblast differentiation and bone...

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PMID: 32621590
DOI: 10.1530/eje-20-0299

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