Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency

Tomo Sakiyama, Akiharu Kubo, Takashi Sasaki, Taketo Yamada, Nobushige Yabe, Ken Ichi Matsumoto, Yuko Futei

研究成果: Article査読

20 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)511-514
ページ数4
ジャーナルJournal of Dermatology
42
5
DOI
出版ステータスPublished - 2015 5月 1

ASJC Scopus subject areas

  • 皮膚病学

フィンガープリント

「Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル