In at least some case, the gene lesion involves a mutation in the CSB gene. It can be associated with ERCC6.
DeSanctis–Cacchione syndrome
Galloway Mowat syndrome
Wallis–Zieff–Goldblatt syndrome
Lyngstadaas syndrome
Grinspan's syndrome
Hapnes Boman Skeie syndrome
Zieve's syndrome
Laugier–Hunziker syndrome