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Article

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Clinical genetics - 1 Feb 2016

Heimdal K, Dalhus B, Rødningen O K, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth M A

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is an autosomal dominant inherited disease defined by the presence of epistaxis and mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. In most families (~85%), HHT is caused by mutations in the ENG (HHT1) or the ACVRL1 (HHT2) genes. Here, we report the results of genetic testing of 113 Norwegian families...

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Source

Identifiers

PMID: 25970827
DOI: 10.1111/cge.12612

Genes

ACVRL1
ENG

Variants

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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