A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-...

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Main Authors: Keiki Yokoo, Gen Yamada, Hirofumi Chiba, Aki Ishikawa, Hiroko Morisaki, Hiroshi Saijo, Sayaka Kudoh, Yasuo Kitamura, Naoki Hirokawa, Masahiro Miyajima, Atsushi Watanabe, Hiroki Takahashi
格式: Article
語言:English
出版: Elsevier 2018-01-01
叢編:Respiratory Medicine Case Reports
在線閱讀:http://www.sciencedirect.com/science/article/pii/S2213007118301266

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http://www.sciencedirect.com/science/article/pii/S2213007118301266

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