title: Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
authors.affiliation: Department of Orthodontics and Craniofacial Biology.
authors.forename: H E
authors.initials: HE
authors.lastname: Feberwee
authors.forename: I
authors.initials: I
authors.lastname: Feenstra
authors.forename: S
authors.initials: S
authors.lastname: Oberoi
authors.forename: I E
authors.initials: IE
authors.lastname: Sama
authors.forename: C W
authors.initials: CW
authors.lastname: Ockeloen
authors.forename: F
authors.initials: F
authors.lastname: Clum
authors.forename: A
authors.initials: A
authors.lastname: Slavotinek
authors.forename: M A R
authors.initials: MA
authors.lastname: Kuijpers
authors.forename: D
authors.initials: D
authors.lastname: Dooijes
authors.forename: A M
authors.initials: AM
authors.lastname: Kuijpers-Jagtman
authors.forename: T
authors.initials: T
authors.lastname: Kleefstra
authors.forename: C E L
authors.initials: CE
authors.lastname: Carels
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D006343:Heart Septal Defects / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D008850:Microphthalmos / Q000235:genetics* / Q000473:pathology*; D020125:Mutation, Missense / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C411984:BCOR protein, human; D018389:Codon, Nonsense; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins