PTCH1 and blepharocheilodontic syndrome: Others studies have reported mutations in AXIN2 (HED), CDH1 (blepharocheilodontic syndrome), DSP (Carvajal/Naxos syndrome), EDARADD (HED), EVC2 (EVCS), FGFR2 (Beare–Stevenson syndrome), PCNT (microcephalic osteofysplastic dwarfism type 2), PITX2 (ARS), PTCH1 (basal cell nevus syndrome), IKBKG (incontinentia pigmenti), LEF1 (HED), MSX1 (Witkop’s syndrome), NPHP1 (juvenile nephronophtisis), SRCAP (Floating-Harbor syndrome), and TBCE (Sanjad–Sakati syndrome).