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Article

Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.

Journal of bone and mineral metabolism - 1 May 2021

Xi Lei, Zhang Hao, Zhang Zhen-Lin

Abstract excerpt

INTRODUCTION: Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with OI have disease variants in COL1A1 and COL1A2 that encode for the α1 and α2 chains of type I collagen. MATERIALS AND METHODS: A retrospective analysis of 185 probands who were diagnosed with OI in Shanghai Jiao Tong University...

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Identifiers

PMID: 33070251
DOI: 10.1007/s00774-020-01163-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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