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Article

Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia.

Journal of medical genetics - 1 May 2011

Lee Nadia Prigoda, Matevski Donco, Dumitru Daniela, Piovesan Beata, Rushlow Diane, Gallie Brenda L

Abstract excerpt

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder affecting the vascular system, characterised by epistaxis, arteriovenous malformations and mucocutaneous and gastrointestinal telangiectases. Mutations in two genes, ENG and ACVRL1, account for the majority of cases. Almost all cases of HHT show a family history of HHT-associated symptoms; few cases are de novo....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21415079
DOI: 10.1136/jmg.2010.088112

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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