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Article

Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta.

Annals of human genetics - 1 Nov 2018

Rodriguez Celin Mercedes, Moosa Shahida, Fano Virginia

Abstract excerpt

Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal-recessively inherited, except for IFITM5 and WNT1,...

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Source

Identifiers

PMID: 30039845
DOI: 10.1111/ahg.12275

Genes

IFITM5
WNT1

Variants

Provenance

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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