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Article

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

American journal of medical genetics. Part A - 1 May 2014

Guillén-Navarro Encarna, Ballesta-Martínez María Juliana, Valencia María, Bueno Ana María, Martinez-Glez Victor, López-González Vanesa, Burnyte Birute, Utkus Algirdas, Lapunzina Pablo, Ruiz-Perez Victor L

Abstract excerpt

The IFITM5 gene has recently been found to be mutated in patients with autosomal dominant osteogenesis imperfecta (OI) type V. This form of OI is characterized by distinctive clinical manifestations, including hyperplastic callus formation at the site of fractures, calcification of the interosseous membrane of the forearm, and dislocation of the head of the radius. Notably, in spite of the fact that a...

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Source

Identifiers

PMID: 24478195
DOI: 10.1002/ajmg.a.36409

Genes

IFITM5

Variants

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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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Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.PMID 24478195Read ↗

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[Genetic mutation and clinical features of osteogenesis imperfecta type V].Semantic proximity Read ↗

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Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 MutationSemantic proximity Read ↗

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

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