Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

• 主要な著者: Kana Kitayama (著者), Tomoya Ishiguro (著者), Masaki Komiyama (著者), Takayuki Morisaki (著者), Hiroko Morisaki (著者), Gaku Minase (著者), Kohei Hamanaka (著者), Satoko Miyatake (著者), Naomichi Matsumoto (著者), Masaru Kato (著者), Toru Takahashi (著者), Tohru Yorifuji (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (AVM). HHT is mostly caused by mutations either in the ENG or ACVRL1 gen...