Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were cl...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Gonçalves Serra, E, Schwerd, T, Moutsianas, L, Cavounidis, A, Fachal, L, Pandey, S, Kammermeier, J, Croft, NM, Posovszky, C, Rodrigues, A, Russell, RK, Barakat, F, Auth, MKH, Heuschkel, R, Zilbauer, M, Fyderek, K, Braegger, C, Travis, SP, Satsangi, J, Parkes, M, Thapar, N, Ferry, H, Matte, JC, Gilmour, KC, Wedrychowicz, A, Sullivan, P, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Baeumler, TA, Fulga, TA, Karaminejadranjbar, M, Ahmed, A, Wilson, R, Barrett, JC, Elkadri, A, Griffiths, AM, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Snapper, SB, Shah, N, Muise, AM, Wilson, DC, Et al
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	Nature Research 2020

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Ижил төстэй зүйлс