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Article

Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

European journal of human genetics : EJHG - 1 Jun 2010

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

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable disorder with bone fragility that is often associated with short stature, tooth abnormalities (dentinogenesis imperfecta), and blue sclera. The most common mutations associated with OI result from the substitution for glycine by another amino acid in the triple helical domain of either the alpha1 or the alpha2 chain of collagen type I. In this study, we compared the...

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Source

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Identifiers

PMID: 20087402
DOI: 10.1038/ejhg.2009.242
PMCID: PMC2987338

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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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