Article
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Gastroenterology - 1 Jun 2020
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 D, McGovern Dermot P B, Brudno Michael, Walters Thomas D, Griffiths Anne M, Muise Aleixo M
Abstract excerpt
BACKGROUND & AIMS: A proportion of infants and young children with inflammatory bowel diseases (IBDs) 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 whole-exome sequencing analyses of blood samples from an unselected cohort of 1005 children with IBD, aged 0-18 years...
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