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Article

Recessively inherited forms of osteogenesis imperfecta.

Annual review of genetics - 1 Jan 2012

Byers Peter H, Pyott Shawna M

Abstract excerpt

More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2. The effects of these changes range from death in the perinatal period to barely increased fracture frequency and reflect different types of mutations. Introduction of bisphosphonates during the past 20 years has targeted bone fragility by decreased resorption. The...

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Identifiers

PMID: 23145505
DOI: 10.1146/annurev-genet-110711-155608

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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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