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Article

Current Overview of Osteogenesis Imperfecta.

Medicina (Kaunas, Lithuania) - 10 May 2021

Deguchi Mari, Tsuji Shunichiro, Katsura Daisuke, Kasahara Kyoko, Kimura Fuminori, Murakami Takashi

Abstract excerpt

Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a heterogeneous disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. Severe OI is perinatally lethal, while mild OI can sometimes not be recognised until adulthood. Severe or lethal OI can...

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Identifiers

PMID: 34068551
DOI: 10.3390/medicina57050464
PMCID: PMC8151368

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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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