title: Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.
authors.affiliation: Departments of aClinical Genetics bPediatric Neurology cRadiology dCytogenetics, APHM, CHU Timone-Enfants, Marseille, France.
authors.forename: Tiffany
authors.initials: T
authors.lastname: Busa
authors.forename: Emilie
authors.initials: E
authors.lastname: Caietta
authors.forename: Brigitte
authors.initials: B
authors.lastname: Chabrol
authors.forename: Nadine
authors.initials: N
authors.lastname: Girard
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.forename: Chantal
authors.initials: C
authors.lastname: Missirian
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization; D003598:Cytoskeletal Proteins / Q000235:genetics*; D020690:GTPase-Activating Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D007360:Intelligence; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D003598:Cytoskeletal Proteins; D020690:GTPase-Activating Proteins; D009687:Nuclear Proteins; C111952:OPHN1 protein, human