Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored.