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Article

ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.

Genes - 11 Feb 2026

Amico Giulia, Severino Mariasavina, Bertamino Marta, Pascarella Rosario, Tortora Domenico, Signa Sara, Rusmini Marta, Rossi Andrea, Ceccherini Isabella, Zedde Marialuisa

Abstract excerpt

Background: Heterozygosity for pathogenic variants in the ABCC6 gene has been associated with an increased incidence of cerebrovascular diseases. This study aims to characterize the prevalence and clinical and neuroradiological phenotypes associated with monoallelic and biallelic ABCC6 variants in pediatric and adult patients presenting with arterial ischemic stroke or cerebral small vessel disease (CSVD)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41751611
DOI: 10.3390/genes17020226
PMCID: PMC12941355

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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