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Variants in the degron of AFF3 are associated with intellectual disability,mesomelic dysplasia,horseshoe kidney,and epileptic encephalopathy
Authors:Norine Voisin  Rhonda E Schnur  Sofia Douzgou  Susan M Hiatt  Cecilie F Rustad  Natasha J Brown  Dawn L Earl  Boris Keren  Olga Levchenko  Sinje Geuer  Sarah Verheyen  Diana Johnson  Yuri A Zarate  Miroslava Han?árová  David J Amor  E Martina Bebin  Jasmin Blatterer  Alfredo Brusco  Alexandre Reymond
Institution:1. Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland;2. GeneDx, Gaithersburg, MD 20877, USA;3. Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA;4. Manchester Centre for Genomic Medicine, St Mary''s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK;5. Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK;6. HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA;7. Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway;8. Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia;9. Murdoch Children’s Research Institute, Flemington Road, Parkville, VIC 3052, Australia;10. Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia;11. Seattle Children''s, Seattle, WA 98105, USA;12. Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France;13. Research Centre for Medical Genetics, Moscow 115522, Russia;14. Max Planck Institute for Molecular Genetics, Berlin 14195, Germany;15. Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany;16. Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria;17. Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK;18. Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA;19. Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic;20. Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA;21. Department of Medical Sciences, University of Torino, Torino 10126, Italy;22. Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy;23. Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy;24. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy;25. Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA;26. Genetics Department, Lyon University Hospital, Lyon 69007, France;27. Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland;28. Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland;29. Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France;30. Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria;31. Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria;32. Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway;33. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA;34. New York Medical College, Valhalla, NY 10595, USA;35. Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland;36. Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway;37. Integris Pediatric Neurology, Oklahoma City, OK 73112, USA;38. Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy;39. Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan;40. Department of Pediatrics, Columbia University, New York, NY 10032, USA;41. Department of Medicine, Columbia University, New York, NY 10032, USA;42. Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France
Abstract:
Keywords:mesomelic dysplasia  horseshoe kidney  intellectual disability  AFF3  AFF4
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