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Article

Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia.

American journal of medical genetics. Part A - 1 Nov 2008

Letteboer Tom G W, Mager Hans-Jurgen, Snijder Repke J, Lindhout Dick, Ploos van Amstel Hans-Kristian, Zanen Pieter, Westermann Kees J J

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations (AVMs) ranging from telangiectases to larger AVMs. Mutations in two genes cause HHT; ENG (HHT1) and ACVRL1 (HHT2). Although the hallmark for clinical diagnosis is the presence of telangiectases, there are few publications reporting the relative distribution and frequency of these features...

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Source

Identifiers

PMID: 18831062
DOI: 10.1002/ajmg.a.32243

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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