JOURNAL OF CROHNS & COLITIS, vol.12, no.9, pp.1104-1112, 2018 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF CROHNS & COLITIS
Genetics and molecular epidemiology, paediatrics, VEO-IBD, monogenic disorders, TNGS, X-LINKED INHIBITOR, IMMUNE DYSREGULATION, GERMLINE MUTATIONS, EVOLVING WEB, GENE, ENTEROPATHY, IMMUNODEFICIENCY, DISORDERS, IL10
Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.