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Article

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.

BMC neurology - 26 Aug 2020

Villa Davide, Cinnante Claudia, Valcamonica Gloria, Manenti Giulia, Lanfranconi Silvia, Colombi Annalisa, Ghione Isabella, Saetti Maria Cristina, D'Amico Mario, Bonato Sara, Bresolin Nereo, Comi Giacomo Pietro, Ronchi Dario

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase-1). CASE PRESENTATION: Here we...

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PMID: 32847536
DOI: 10.1186/s12883-020-01890-2
PMCID: PMC7450577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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