title: [Cerebro-oculo-facio-skeletal (COFS) syndrome].
authors.affiliation: Department of Pediatrics, Keio University School of Medicine.
authors.forename: M
authors.initials: M
authors.lastname: Kosuga
authors.forename: T
authors.initials: T
authors.lastname: Okuyama
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D001842:Bone and Bones / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities*; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000235:genetics / Q000503:physiopathology; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D011379:Prognosis; D013577:Syndrome; D014178:Translocation, Genetic