Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel...

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出版年:	Case Reports in Gastroenterology
主要な著者:	Akira Yoneda, Kazuya Okada, Hitoshi Okubo, Mitsutoshi Matsuo, Hiroki Kishikawa, Banyar Than Naing, Atsushi Watanabe, Takashi Shimada
フォーマット:	論文
言語:	英語
出版事項:	Karger Publishers 2014-05-01
主題:	Spontaneous colonic perforations Ehlers-Danlos syndrome Connective tissue
オンライン･アクセス:	http://www.karger.com/Article/FullText/363373