Hereditary haemorrhagic telangiectasia: a clinical and scientific review

  title={Hereditary haemorrhagic telangiectasia: a clinical and scientific review},
  author={Fatima S. Govani and Claire L Shovlin},
  journal={European Journal of Human Genetics},
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)-β superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations. In this article, we review the underlying molecular, cellular and circulatory… CONTINUE READING
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ALK 5and TGFBR 2independent role of ALK 1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2

  • FJ Blanco, JF Santibanez, M Guerrro-Esteo
  • Blood
  • 2008

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