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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...

Topics

Activin Receptors, Type II
Antigens, CD
Endoglin
Hemorrhage
Humans
Mutation
Receptors, Cell Surface
Signal Transduction
Telangiectasia, Hereditary Hemorrhagic
Transforming Growth Factor beta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

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

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