title: Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290.
authors.affiliation: Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran; Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran; Gene Clinic, Tehran, Iran.
authors.forename: S R
authors.initials: SR
authors.lastname: Ghaffari
authors.forename: M
authors.initials: M
authors.lastname: Rafati
authors.forename: G
authors.initials: G
authors.lastname: Ghaffari
authors.forename: M
authors.initials: M
authors.lastname: Morra
authors.forename: M
authors.initials: M
authors.lastname: Tekin
mesh_terms: D000328:Adult; D000951:Antigens, Neoplasm / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007492:Iran; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins