De Sanctis-Cacchione Syndrome (DSC)

De Sanctis-Cacchione Syndrome, also known as xeroderma pigmentosum with neurologic manifestation, is related to xeroderma pigmentosum, complementation group a and skin carcinoma. An important gene associated with De Sanctis-Cacchione Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Homology Directed Repair and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and global developmental delay