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Article

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

Journal of medical genetics - 1 Jan 2013

Rauch Frank, Moffatt Pierre, Cheung Moira, Roughley Peter, Lalic Liljana, Lund Allan M, Ramirez Norman, Fahiminiya Somayyeh, Majewski Jacek, Glorieux Francis H

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation. METHODS: IFITM5 exon 1 was analysed by Sanger...

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Source

Identifiers

PMID: 23240094
DOI: 10.1136/jmedgenet-2012-101307

Genes

IFITM5

Provenance

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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Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.PMID 23240094Read ↗

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