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Article

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2014

Canzonieri Cecilia, Centenara Laura, Ornati Federica, Pagella Fabio, Matti Elina, Alvisi Costanza, Danesino Cesare, Perego Maurizio, Olivieri Carla

Abstract excerpt

PURPOSE: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. Three causative genes are known: ENG (HHT-1), ACVRL1 (HHT-2), and SMAD4 (mutated in HHT in association with juvenile polyposis). Gastrointestinal bleeding is the most common symptom after epistaxis. The stomach and the duodenum are the main...

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Source

Identifiers

PMID: 23722869
DOI: 10.1038/gim.2013.62

Genes

ACVRL1
ENG
SMAD4

Provenance

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

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