title: A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment.
authors.forename: F
authors.initials: F
authors.lastname: Beby
authors.forename: K
authors.initials: K
authors.lastname: Dieterich
authors.forename: P
authors.initials: P
authors.lastname: Calvas
mesh_terms: D015783:Aniridia / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007429:Intraocular Pressure / Q000502:physiology; D009154:Mutation; D020417:Nystagmus, Congenital / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins