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Article

SMAD4 mutations found in unselected HHT patients.

Journal of medical genetics - 1 Oct 2006

Gallione C J, Richards J A, Letteboer T G W, Rushlow D, Prigoda N L, Leedom T P, Ganguly A, Castells A, Ploos van Amstel J K, Westermann C J J, Pyeritz R E, Marchuk D A

Abstract excerpt

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease exhibiting multifocal vascular telangiectases and arteriovenous malformations. The majority of cases are caused by mutations in either the endoglin (ENG) or activin receptor-like kinase 1 (ALK1, ACVRL1) gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 16613914
DOI: 10.1136/jmg.2006.041517
PMCID: PMC2563178

Genes

SMAD4
ENG
ACVRL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16613914-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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