Furthermore, a specific RET haplotype was identified clearly associated with the sporadic forms of HSCR, characterised by the presence of a common RET variant (rs2435357; 10:g.43086608T > C) located in a gut-specific RET enhancer element in intron 1, which it has been demonstrated to disrupt binding of SOX108, 9, 10, 11, 12. Here, RET is linked to Hirschsprung disease.