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Article

Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.

PloS one - 1 Jan 2013

Zhang Zeng, Li Mei, He Jin-Wei, Fu Wen-Zhen, Zhang Chang-Qing, Zhang Zhen-Lin

Abstract excerpt

Osteogenesis imperfecta (OI) type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. The causative mutation, c.-14C>T in the 5'-untranslated r...

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Identifiers

PMID: 23977282
DOI: 10.1371/journal.pone.0072337
PMCID: PMC3748067

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23977282-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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