Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

@article{Abdalla2006HereditaryHT,
  title={Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.},
  author={Saifeldeen A. Abdalla and Michelle Letarte},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 2},
  pages={97-110}
}
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. The two major types of disease, HHT1 and HHT2, are caused by mutations in the ENG (endoglin) and ACVRL1 genes, respectively. The corresponding endoglin and ALK-1 proteins are specific endothelial receptors of the transforming growth factor beta superfamily essential for maintaining vascular integrity. Many mutations have been identified in… CONTINUE READING
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