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Article

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.

Bone - 1 Apr 2023

Holtz A P, Souza L T, Ribeiro E M, Acosta A X, Lago R M R S, Simoni G, Llerena J C, Félix T M

Abstract excerpt

INTRODUCTION: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder caused by disruption of type I collagen synthesis. Previous Brazilian molecular OI studies have been restricted to case reports or small cohorts. The Brazilian OI Network (BOIN) is a multicenter study collecting clinical OI treatment data from five reference centers in three regions of Brazil. OBJECTIVE: To describe...

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Identifiers

PMID: 36709916
DOI: 10.1016/j.bone.2023.116683

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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