Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

  title={Hereditary hemorrhagic telangiectasia: from molecular biology to patient care},
  author={Sophie Dupuis-Girod and Sabine Bailly and Henri Plauchu},
  journal={Journal of Thrombosis and Haemostasis},
Summary.  Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life‐threatening visceral arteriovenous malformations of various types, including pulmonary, hepatic, cerebral, and spinal. Gastrointestinal telangiectases are frequent and may cause severe bleeding. HHT type 1 results from mutations in ENG on chromosome 9 (coding for endoglin), and HHT type 2 results… 

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