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Article

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Genes - 13 Jan 2022

Markova Tatyana, Kenis Vladimir, Melchenko Evgeniy, Osipova Darya, Nagornova Tatyana, Orlova Anna, Zakharova Ekaterina, Dadali Elena, Kutsev Sergey

Abstract excerpt

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies...

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Identifiers

PMID: 35052477
DOI: 10.3390/genes13010137
PMCID: PMC8775336

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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