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Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Aug 2022

Wei Shuoshuo, Yao Yangyang, Shu Meng, Gao Ling, Zhao Jiajun, Li Tianyou, Wang Yanzhou, Xu Chao

Abstract excerpt

OBJECTIVE: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis imperfecta (OI). METHODS: We established a Chinese hospitalized cohort with OI and followed them up for an average of 6 years. All patients were confirmed as having OI using whole-exome sequencing. We analyzed the genotype-phenotype relationship based on different types, pathogenic...

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Identifiers

PMID: 35550181
DOI: 10.1016/j.eprac.2022.05.003

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