JOURNAL OF CROHNS & COLITIS, cilt.12, sa.9, ss.1104-1112, 2018 (SCI-Expanded)
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.