与马凡氏综合征相关基因突变有关的家族性胸主动脉瘤和夹层：一个有两种基因突变的家族的病例报告
Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations.
作者信息
Yamawaki Tohru, Nagaoka Kazuhiro, Morishige Kunio, Sadamatsu Kenji, Tashiro Hideki, Yasunaga Hiroshi, Morisaki Hiroko, Morisaki Takayuki
机构信息
Division of Cardiovascular Medicine, St. Mary's Hospital, Kurume.
出版信息
Intern Med. 2009;48(7):555-8. doi: 10.2169/internalmedicine.48.1833. Epub 2009 Apr 1.
Abstract
We report three cases of thoracic aortic aneurysm and dissection in a Japanese family. Marfan-related genes were analyzed; FBN1 and TGFBR2 gene mutations were observed in this family.
摘要
我们报告了一个日本家族中三例胸主动脉瘤和夹层的病例。对与马凡综合征相关的基因进行了分析；在这个家族中观察到了FBN1和TGFBR2基因突变。
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