ERCC4 and Cowden syndrome 1: Pathogenic variants in ERCC4 are associated with disorders such as Xeroderma pigmentosum group F (MIM:278760), Cockayne Syndrome (MIM:216400), a combined form known as XPF/CS (MIM:278760), Fanconi anemia (FANQ) (MIM:615272), and XFE progeroid syndrome (MIM:610965) [11,12,13,14,15].