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Article

Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.

Journal of endocrinological investigation - 1 Jan 2024

Lin X, Hu J, Zhou B, Zhang Q, Jiang Y, Wang O, Xia W, Xing X, Li M

Abstract excerpt

PURPOSE: To evaluate the genotypic and phenotypic relationship in a large cohort of OI patients and to compare the differences between eastern and western OI cohorts. METHODS: A total of 671 OI patients were included. Pathogenic mutations were identified, phenotypic information was collected, and relationships between genotypes and phenotypes were analyzed. Literature about western OI cohorts was searched, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37270749
DOI: 10.1007/s40618-023-02123-2
PMCID: PMC10776744

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