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Article

Osteogenesis imperfecta.

The Journal of the American Academy of Orthopaedic Surgeons - 1 Jan 2000

Kocher M S, Shapiro F

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue characterized by bone fragility. The disease state encompasses a phenotypically and genotypically heterogeneous group of inherited disorders that result from mutations in the genes that code for type I collagen...

Topics

Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 7
Collagen
Humans
Mutation
Osteogenesis Imperfecta

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9682085
DOI: 10.5435/00124635-199807000-00004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9682085-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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