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Article

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

Clinical genetics - 1 Aug 2014

Tørring P M, Brusgaard K, Ousager L B, Andersen P E, Kjeldsen A D

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVM). The clinical diagnosis of HHT is based on the Curaçao criteria. About 85% of HHT patients carry mutations in the ENG, ACVRL1 or SMAD4 genes. Here, we report on the genetic heterogeneity in the Danish...

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Share to Arteriovenous Malformations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24001356
DOI: 10.1111/cge.12269

Genes

ACVRL1
ENG
SMAD4

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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