Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

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作者： Congyao,Zha ^[1] ; Carole A,Farah ^[1] ; Richard J,Holt ^[2] ; Fabiola,Ceroni ^[2] ; Lama,Al-Abdi ^[3] ; Fanny,Thuriot ^[4] ; Arif O,Khan ^[5] ; Rana,Helaby ^[4] ; Sébastien,Lévesque ^[6] ; Fowzan S,Alkuraya ^[7] ; Alison,Kraus ^[4] ; Nicola K,Ragge ^[5] ; Wayne S,Sossin ^[4]

作者单位： Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada. ^[1] Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK. ^[2] Department of Zoology, College of Science, King Saud University, Riyadh 11564, Saudi Arabia. ^[3] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia. ^[4] Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke J1H 5N4, Canada. ^[5] Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates. ^[6] Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine at Case Western University, Cleveland, Ohio 44195, USA. ^[7] Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11564, Saudi Arabia. ^[8] Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds LS1 3EX, UK. ^[9] Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Foundation Trust, Birmingham B15 2TG, UK. ^[10]