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Article

A case of osteogenesis imperfecta type II caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent hydrocephalus.

Neuropediatrics - 1 Aug 2012

Hachiya Yasuo, Hayashi Masaharu, Negishi Takashi, Atsumi Soh, Kubota Masaya, Nishihara Tetsuhiro

Abstract excerpt

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder caused by defects in type I collagen synthesis. OI is generally classified into four types (I to IV), and the clinical prognosis varies from a lethal outcome for type II and varying deformities for type III to a normal lifespan for the other types. We describe a female patient with biochemically confirmed OI caused by a novel mutation in the...

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Identifiers

PMID: 22911485
DOI: 10.1055/s-0032-1324405

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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