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Article

Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report.

Medicine - 27 Aug 2021

Płomiński Janusz, Szwabowicz Marek, Fiedorowicz Ewa, Grzybowski Roman, Latacz Maria, Cieślińska Anna

Abstract excerpt

INTRODUCTION: Osteogenesis imperfecta (OI) is a disorder of the connective tissue that mainly causes the bones to become excessively brittle. The vast majority of OI cases are associated with mutations in the genes encoding the I alpha. PATIENT CONCERNS: A 57-year-old woman office worker was admitted because of severe, long-lasting pain in the thoracic spine while bending down. She and her daughter have a history...

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Identifiers

PMID: 34449476
DOI: 10.1097/MD.0000000000027021
PMCID: PMC8389867

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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