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Article

Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2010

Rauch Frank, Lalic Liljana, Roughley Peter, Glorieux Francis H

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains, alpha1(I) and alpha2(I). In this study, we examined the relationship between collagen type I mu...

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Source

Identifiers

PMID: 19929435
DOI: 10.1359/jbmr.091109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19929435-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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