title: Clinical utility gene card for: Aniridia.
authors.affiliation: Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.
authors.forename: Rose
authors.initials: R
authors.lastname: Richardson
authors.affiliation: Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
authors.forename: Melanie
authors.initials: M
authors.lastname: Hingorani
authors.affiliation: Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.
authors.forename: Veronica
authors.initials: V
authors.lastname: Van Heyningen
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Cheryl
authors.initials: C
authors.lastname: Gregory-Evans
authors.affiliation: Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.|Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK.|Department of Ophthalmology, Great Ormond Street Hospital, London, UK.
authors.forename: Mariya
authors.initials: M
authors.lastname: Moosajee
mesh_terms: D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics*; D003362:Cost-Benefit Analysis; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D000071841:PAX6 Transcription Factor / Q000235:genetics; D057089:Pathology, Molecular; D018570:Risk Assessment; D012680:Sensitivity and Specificity
chemical_list: C456976:ELP4 protein, human; D009419:Nerve Tissue Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human