Distinctive genetic variation of long‐segment Hirschsprung's disease in Taiwan

Background Hirschsprung's disease (HSCR) is a congenital disorder with the absence of myenteric and submucosal ganglion cells within distal gut. Due to multigenic inheritance and interactions, we employed next‐generation sequencing (NGS) to investigate genetic backgrounds of long‐segment HSCR (L‐HSCR) in Taiwan. Methods Genomic DNA extracted from peripheral blood of L‐HSCR patients was subjected to capture‐based NGS, based on a 31‐gene panel....