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Article

Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2007

Sabbà C, Pasculli G, Lenato G M, Suppressa P, Lastella P, Memeo M, Dicuonzo F, Guant G

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by epistaxis, mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs), particularly in the brain (CAVMs), lungs (PAVMs), liver (HAVMs) and gastrointestinal tract (GI). The identification of a mutated ENG (HHT1) or ALK-1 (HHT2) gene now enables a genotype-phenotype correlation. OBJECTIVE: To determine...

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Source

Identifiers

PMID: 17388964
DOI: 10.1111/j.1538-7836.2007.02531.x

Genes

ENG
ALK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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