Article
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
Gastroenterology - 1 May 2016
Li Qi, Lee Cheng Hiang, Peters Lauren A, Mastropaolo Lucas A, Thoeni Cornelia, Elkadri Abdul, Schwerd Tobias, Zhu Jun, Zhang Bin, Zhao Yongzhong, Hao Ke, Dinarzo Antonio, Hoffman Gabriel, Kidd Brian A, Murchie Ryan, Al Adham Ziad, Guo Conghui, Kotlarz Daniel, Cutz Ernest, Walters Thomas D, Shouval Dror S, Curran Mark, Dobrin Radu, Brodmerkel Carrie, Snapper Scott B, Klein Christoph, Brumell John H, Hu Mingjing, Nanan Ralph, Snanter-Nanan Brigitte, Wong Melanie, Le Deist Francoise, Haddad Elie, Roifman Chaim M, Deslandres Colette, Griffiths Anne M, Gaskin Kevin J, Uhlig Holm H, Schadt Eric E, Muise Aleixo M
Abstract excerpt
BACKGROUND & AIMS: Severe forms of inflammatory bowel disease (IBD) that develop in very young children can be caused by variants in a single gene. We performed whole-exome sequence (WES) analysis to identify genetic factors that might cause granulomatous colitis and severe perianal disease, with recurrent bacterial and viral infections, in an infant of consanguineous parents. METHODS: We performed targeted WES...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
