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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Detalhes bibliográficos
Publicado no:Respir Med Case Rep
Main Authors: Yokoo, Keiki, Yamada, Gen, Chiba, Hirofumi, Ishikawa, Aki, Morisaki, Hiroko, Saijo, Hiroshi, Kudoh, Sayaka, Kitamura, Yasuo, Hirokawa, Naoki, Miyajima, Masahiro, Watanabe, Atsushi, Takahashi, Hiroki
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6068337/
https://ncbi.nlm.nih.gov/pubmed/30073140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.rmcr.2018.07.001
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