ヤマダ　タケト   YAMADA Taketo   山田　健人    所属   埼玉医科大学  医学部 病理学    職種   教授
論文種別	学術雑誌(症例報告)
言語種別	英語
査読の有無	査読あり
表題	Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency
掲載誌名	正式名：Journal of Dermatology
巻・号・頁	42(5),511-514頁
著者・共著者	Sakiyama T, Kubo A, Sasaki T, Yamada T, Yabe N, Matsumoto K, Futei Y
発行年月	2015/05
概要	Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS.