Cerebrooculofacioskeletal Syndrome

Cerebrooculofacioskeletal Syndrome, also known as cerebro-oculo-facio-skeletal syndrome, is related to cerebrooculofacioskeletal syndrome 3 and cerebrooculofacioskeletal syndrome 2. An important gene associated with Cerebrooculofacioskeletal Syndrome is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit), and among its related pathways/superpathways are Homology Directed Repair and DNA repair pathways, full network. Affiliated tissues include eye, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and growth/size/body region.