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Article

Genotype-driven cerebrovascular risk across age and sex in hereditary hemorrhagic telangiectasia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 16 Apr 2026

Palermo Matteo, Cocilovo Federico, Trevisi Gianluca, Lucci Cordisco Emanuela, Di Martino Luigi, Sonnini Elena, Albanese Alessio, Doglietto Francesco, Olivi Alessandro, Pola Roberto, Gaetani Eleonora, Sturiale Carmelo Lucio

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by multisystem arteriovenous malformations (AVMs). Still, the influence of demographic factors and specific pathogenic variants on systemic and cerebrovascular involvement remains incompletely defined. METHODS: We retrospectively included 142 patients with genetically confirmed HHT diagnosis....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41989642
DOI: 10.1007/s10072-026-09018-z
PMCID: PMC13086736

Genes

ACVRL1
ENG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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