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Article

A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.

Molecular genetics & genomic medicine - 1 Jul 2020

Wu Dong, Wang Yuxin, Huang Huijuan

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) type V is a rare heritable bone disorder caused by pathogenic variants of IFITM5. Only two mutated alleles in IFITM5 have been identified worldwide, the role of which in OI pathology is not fully understood. METHODS: A neonatal case of suspected OI, clinically manifested as a rare clavicle transection fracture with delayed early fracture healing, was studied. Subtle...

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Identifiers

PMID: 32383316
DOI: 10.1002/mgg3.1287
PMCID: PMC7336742

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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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