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Article

Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.

Journal of neurology - 31 Mar 2026

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

Abstract excerpt

BACKGROUND: Hereditary Hemorrhagic Telangiectasia (HHT) exhibits marked phenotypic heterogeneity. Although gene-organ associations are well established for visceral involvement, predictors of cerebrovascular malformations (CVMs), particularly brain arteriovenous malformations (bAVMs), remain incompletely defined. This study aimed to investigate genotype-phenotype correlations and identify predictors of bAVMs in a...

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Source

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Identifiers

PMID: 41915210
DOI: 10.1007/s00415-026-13777-2
PMCID: PMC13038781

Genes

ENG
ACVRL1
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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