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Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

16 Jan 2019

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI. METHODS: A total of 161 patients who were diagnosed as OI in Department of...

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PMID: 30614853
DOI: 10.1097/cm9.0000000000000013

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