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Article

Update on the Genetics of Osteogenesis Imperfecta.

Calcified tissue international - 1 Dec 2024

Jovanovic Milena, Marini Joan C

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized by bone fragility and deformity, growth deficiency, and other secondary connective tissue defects. OI is now understood as a collagen-related disorder caused by defects of genes whose protein products interact with collagen for folding, post-translational modification, processing and trafficking, affecting bone...

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Identifiers

PMID: 39127989
DOI: 10.1007/s00223-024-01266-5
PMCID: PMC11607015

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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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