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Article

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.

European journal of human genetics : EJHG - 1 Jul 2009

Govani Fatima S, Shovlin Claire L

Abstract excerpt

The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-beta superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations. In...

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Identifiers

PMID: 19337313
DOI: 10.1038/ejhg.2009.35
PMCID: PMC2986493

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Source receipt: pubmed, retrieved 7 Sept 2026.

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