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Article

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

Clinical genetics - 1 Apr 2011

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk J M, Stevenson D A, Gedge F, Bayrak-Toydemir P

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by a unique pattern of telangiectasia and arteriovenous malformations (AVMs). Mutations in one of two genes (ENG and ACVRL1) cause approximately 85% of cases. Genetic testing impacts clinical mana...

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Source

Identifiers

PMID: 21158752
DOI: 10.1111/j.1399-0004.2010.01596.x

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21158752-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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