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  • Hereditary haemorrhagic telangiectasia: a clinical and scientific review
  • Govani FS; Shovlin CL
  • Eur J Hum Genet 2009[Jul]; 17 (7): 860-71
  • 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 this article, we review the underlying molecular, cellular and circulatory pathobiology; explore HHT clinical and genetic diagnostic strategies; present detailed considerations regarding screening for asymptomatic visceral involvement; and provide overviews of management strategies.
  • |*Telangiectasia, Hereditary Hemorrhagic/genetics/metabolism/physiopathology[MESH]
  • |Activin Receptors, Type II/genetics[MESH]
  • |Antigens, CD/genetics[MESH]
  • |Endoglin[MESH]
  • |Hemorrhage[MESH]
  • |Humans[MESH]
  • |Mutation[MESH]
  • |Receptors, Cell Surface/genetics[MESH]
  • |Signal Transduction[MESH]
  • |Transforming Growth Factor beta/metabolism[MESH]

  • *{{pmid19337313}}
    *<b>[ Hereditary haemorrhagic telangiectasia: a clinical and scientific review ]</b> Eur J Hum Genet 2009; 17(7) ; 860-71 Govani FS; Shovlin CL


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    Eur J Hum Genet

    860 7.17 2009