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Article

A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.

Calcified tissue international - 1 Dec 2021

Mäkitie R E, Pekkinen M, Morisada N, Kobayashi D, Yonezawa Y, Nishimura G, Ikegawa S, Mäkitie O

Abstract excerpt

Osteogenesis imperfecta (OI) and other decreased bone density disorders comprise a heterogeneous group of heritable diseases with skeletal fragility. Recently, it was discovered that mutations in SGMS2, encoding sphingomyelin synthetase 2, result in aberrant sphingomyelin metabolism and lead to a novel form of OI termed osteoporosis with calvarial doughnut lesions (OP-CDL) with moderate to severe skeletal...

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Identifiers

PMID: 34156493
DOI: 10.1007/s00223-021-00878-5
PMCID: PMC8531111

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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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