Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center

BACKGROUND & AIMS: A proportion of infants and young children with inflammatory bowel diseases (IBD) have subtypes associated with a single gene variant (monogenic IBD). We aimed to determine the prevalence of monogenic disease in a cohort of pediatric patients with IBD. METHODS: We performed wh...

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Publicado no:Gastroenterology
Main Authors: Crowley, Eileen, Warner, Neil, Pan, Jie, Khalouei, Sam, Elkadri, Abdul, Fiedler, Karoline, Foong, Justin, Turinsky, Andrei L., Bronte-Tinkew, Dana, Zhang, Shiqi, Hu, Jamie, Tian, David, Li, Dalin, Horowitz, Julie, Siddiqui, Iram, Upton, Julia, Roifman, Chaim M., Church, Peter C., Wall, Donna A., Ramani, Arun K., Kotlarz, Daniel, Klein, Christoph, Uhlig, Holm, Snapper, Scott B., Gonzaga-Jauregui, Claudia, Paterson, Andrew, McGovern, Dermot PB., Brudno, Michael, Walters, Thomas D., Griffiths, Anne M., Muise, Aleixo M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7283012/
https://ncbi.nlm.nih.gov/pubmed/32084423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2020.02.023
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