title: A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
authors.affiliation: O. di Genetica Medica, Dipartimento di Medicina Interna, Cardioangiologia ed Epatologia, Università degli Studi di Bologna, Bologna, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Graziano
authors.forename: Angela V
authors.initials: AV
authors.lastname: D'Elia
authors.forename: Laura
authors.initials: L
authors.lastname: Mazzanti
authors.forename: Filomena
authors.initials: F
authors.lastname: Moscano
authors.forename: Simonetta
authors.initials: S
authors.lastname: Guidelli Guidi
authors.forename: Emanuela
authors.initials: E
authors.lastname: Scarano
authors.forename: Daniela
authors.initials: D
authors.lastname: Turchetti
authors.forename: Emilio
authors.initials: E
authors.lastname: Franzoni
authors.forename: Giovanni
authors.initials: G
authors.lastname: Romeo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Damante
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
mesh_terms: D015783:Aniridia / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010290:Parents; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins