Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia

Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia disorder characterized by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in internal organs. Recurrent epistaxis is the primary complaint in 90%‐96% of HHT patients and the other symptoms come with age. The aim of this study was to analyze HHT‐associated gene variant spectrum in Chinese HHT patients and to assess whether genetic testing could...