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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy,severe developmental delay and dysmorphism among Yemenite Jews
Affiliation:1. Pediatric Genetics Unit, Schneider Children''s Medical Center of Israel, Petach Tikva, Israel;2. Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel;3. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;4. Pediatric Neurology Unit, Kaplan Medical Center Rehovot, Israel;5. Shaare Zedek Medical Center, Hebrew University School of Medicine, Jerusalem, Israel;6. Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa, Israel;7. Genomic Research Department, Emedgene Technologies, Tel-Aviv, Israel;8. Gene by Gene, Genomic Research Center, Houston, TX, USA;9. Variantyx, Inc, Framingham, MA, USA;10. Institute of Medical Genetics, Kaplan Medical Center, Rehovot, Israel;11. Radiology Unit, Schneider Children''s Medical Center of Israel, Petach Tikva, Israel;12. Metabolic Diseases Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel;13. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;14. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel;15. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;p. Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel;q. Pediatric Neurology Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel;r. Felsenstein Medical Research Center, Petach Tikva, Israel;s. The Pinchas Borenstein Talpiot Medical Leadership Program, The Chaim Sheba Medical Center, 52621, Ramat Gan, Israel;1. Complex Motor Disorder Service, Evelina London Children''s Hospital, Guy''s and St Thomas'' NHS Foundation Trust, Floor 2 Beckett House, Lambeth Palace Road, London, SE1 7EU, United Kingdom;2. F. Hoffmann-La Roche Ltd, Basel, Switzerland;3. King''s College London, Institute of Psychiatry, Psychology and Neurosciences, Psychology Department, London, SE5 8AF, United Kingdom;1. Department of Pediatric Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey;2. Department of Pediatric Rheumatology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey;3. Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey;4. Departments of Ophthalmology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey;5. Department of Radiology, Division of Neuroradiology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey;1. Department of Pediatric Neurology, Charles University, 2nd Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic;2. Faculty of Electrical Engineering, Department of Circuit Theory, Czech Technical University in Prague, Technicka 2, 166 27 Prague, Czech Republic;3. Department of Psychology, Charles University, 2nd Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic;4. Department of Neurosurgery, Charles University, 2nd Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic;5. Department of Radiology, Charles University, 2nd Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic;6. Department of Pathology and Molecular Medicine, Charles University, 2nd Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic;1. Department of Pediatric Neurology, Arabkir Medical Center, 30 Mamikonyants str., 0014 Yerevan, Armenia;2. Department of Pediatrics, Yerevan State Medical University, 2 Koryun str., 0025 Yerevan, Armenia;3. Department of Pediatric Neurology, University Children''s Hospital, 75, Steinwiesstrasse, 8032 Zurich, Switzerland;1. Faculty of Psychology and Educational Science, University of Geneva, 28 Bd Pont d''Arve, CH-1211, Genève 4, Switzerland;2. Pediatric Radiology, Children''s Hospital of Geneva, Switzerland;3. Pediatric Ophthalmology, La Tour Hospital, Geneva, Switzerland;4. Pediatric Neurology Unit, Pediatric Subspecialties Service, Children''s Hospital of Geneva, Switzerland
Abstract:
Keywords:WW Domain Containing Oxidoreductase  Early infantile epileptic encephalopathy  Intellectual disability  3′ splice site
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