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Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta

4 Feb 2019

Abstract excerpt

Osteogenesis imperfecta (OI) is a rare hereditary skeletal dysplasia, characterized by recurrent fractures and bone deformity. This study presents a clinical characterization and mutation analysis of 668 patients, aiming to establish the mutation spectrum and to elucidate genotype-phenotype correlations in Chinese OI patients. We identified 274 sequence variants (230 in type I collagen encoding genes and 44 in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30715774
DOI: 10.1002/humu.23718

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