title: Clinical utility gene card for: Wolfram syndrome.
authors.affiliation: Great Ormond Street Hospital, London, UK.|UCL Institute of Ophthalmology, London, UK.|Moorfields Eye Hospital, London, UK.
authors.forename: Mariya
authors.initials: M
authors.lastname: Moosajee
authors.affiliation: UCL Institute of Ophthalmology, London, UK.|Moorfields Eye Hospital, London, UK.|Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
authors.forename: Patrick
authors.initials: P
authors.lastname: Yu-Wai-Man
authors.affiliation: Department of Medical Genetics, Archet 2 Hospital, CHU of Nice, Nice, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Rouzier
authors.affiliation: Great Ormond Street Hospital, London, UK.|UCL Institute of Child Health, London, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: Bitner-Glindzicz
authors.affiliation: Great Ormond Street Hospital, London, UK.|London School of Hygiene and Tropical Medicine, London, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Bowman
mesh_terms: D019588:Aging, Premature / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D028361:Mitochondrial Diseases / Q000235:genetics; D009154:Mutation; D009896:Optic Atrophy / Q000235:genetics; D057089:Pathology, Molecular; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
chemical_list: C523851:CISD2 protein, human; D008565:Membrane Proteins; C114987:wolframin protein