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Article

Genetic causes and mechanisms of Osteogenesis Imperfecta.

Bone - 1 Sept 2017

Lim Joohyun, Grafe Ingo, Alexander Stefanie, Lee Brendan

Abstract excerpt

Osteogenesis Imperfecta (OI) is a genetic disorder characterized by various clinical features including bone deformities, low bone mass, brittle bones, and connective tissue manifestations. The predominant cause of OI is due to mutations in the two genes that encode type I collagen. However, recent advances in sequencing technology has led to the discovery of novel genes that are implicated in recessive and...

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Identifiers

PMID: 28232077
DOI: 10.1016/j.bone.2017.02.004
PMCID: PMC5607741

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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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