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J-GLOBAL ID：202002222061706405   Reference number：20A0116865

Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation

COL3A1における新しいミスセンス突然変異を伴う血管型エーラスダンロス症候群:初期症状の血胸に対する介入治療後の大動脈解離を伴う50代男性

Author (18)： Sakai Kosuke (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Sakai Kosuke (Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan) ,  Toda Maiko (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Kyoyama Hiroyuki (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Nishimura Hiroaki (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Kojima Akitoshi (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Kuwabara Yoshiki (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Kobayashi Yumiko (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Kobayashi Yumiko (Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan) ,  Kikuchi Satoshi (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Hirata Yusuke (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Moriyama Gaku (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan) ,  Watanabe Wataru (Department of Diagnostic Imaging, Saitama Medical Center, Saitama Medical University, Japan) ,  Akutsu Koichi (Department of Cardiovascular Medicine, Nippon Medical School, Japan) ,  Nakai Maki (Division of Personalized Genetic Medicine, Nippon Medical School Hospital, Japan) ,  Yamada Takeshi (Division of Personalized Genetic Medicine, Nippon Medical School Hospital, Japan) ,  Gemma Akihiko (Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan) ,  Uematsu Kazutsugu (Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 58  Issue： 23  Page： 3441-3447(J-STAGE)  Publication year： 2019 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： COL3A1 gene ,...

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Author keywords (5)： vascular Ehlers-Danlos syndrome ,  COL3A1 ,  angiography ,  aortic dissection ,  hemothorax

JST classification (2)： Cardiovascular system diseases  (GJ03000C) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (18)：

• 1. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342: 673-680, 2000.
• 2. Abel MD, Carrasco LR. Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 102: 582-590, 2006.
• 3. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 175: 8-26, 2017.
• 4. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77: 31-37, 1998.
• 5. Matsushita A, Takayanagi N, Ishiguro T, et al. A case of Ehlers-Danlos syndrome suspected from pulmonary hematoma due to disruption of the lung. Nihon Kokyuki Gakkai Zasshi (J Jpn Respir Soc) 47: 704-710, 2009 (in Japanese, Abstract in English).

Terms in the title (7)： ミスセンス突然変異 ,  血管型エーラスダンロス症候群 ,  初期症状 ,  血胸 ,  治療 ,  大動脈解離 ,  男性