BBX and Hirschsprung disease: When we compared their gene expression pattern in EPCs from HSCR patients versus controls, 9 of the genes (KPNA1, EED, SULF1, CDK5RAP2, BBX, DRG1, RAB10, MYDGF and RNA45S5) were found to be significantly up-regulated in the HSCR group (p value ≤ 0,05) (Fig. 3).