Prevalence and clinical features of inflammatory bowel diseases associated with monogenetic variants, identified by whole-exome sequencing in 1000 children at a single center

<p><strong>Background & Aims:</strong><br /> 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 pe...

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Main Authors: Crowley, E, Warner, N, Pan, J, Khalouei, S, Elkadri, A, Fiedler, K, Foong, J, Turinsky, AL, Bronte-Tinkew, D, Zhang, S, Hu, J, Tian, D, Li, D, Horowitz, J, Siddiqui, I, Upton, J, Roifman, CM, Church, PC, Wall, DA, Ramani, AK, Kotlarz, D, Klein, C, Uhlig, H, Snapper, SB, Gonzaga-Jauregui, C, Paterson, AD, McGovern, PB, Brudno, M, Walters, TD, Griffiths, AM, Muise, AM
Format: Journal article
Language:English
Published: Elsevier 2020