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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Authors:Katrina Tatton‐Brown  Anne Murray  Sandra Hanks  Jenny Douglas  Ruth Armstrong  Siddharth Banka  Lynne M. Bird  Carol L. Clericuzio  Valerie Cormier‐Daire  Tom Cushing  Frances Flinter  Marie‐Line Jacquemont  Shelagh Joss  Esther Kinning  Sally Ann Lynch  Alex Magee  Vivienne McConnell  Ana Medeira  Keiichi Ozono  Michael Patton  Julia Rankin  Debbie Shears  Marleen Simon  Miranda Splitt  Volker Strenger  Kyra Stuurman  Clare Taylor  Hannah Titheradge  Lionel Van Maldergem  I. Karen Temple  Trevor Cole  Sheila Seal  Childhood Overgrowth Consortium  Nazneen Rahman
Affiliation:1. Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK;2. Correspondence to:;3. Dr. Kate Tatton‐Brown, Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.;4. E‐mail: kate.tatton-brown@icr.ac.uk;5. Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK;6. Centre for Genetic Medicine, Institute of Human Development, University of Manchester, Manchester, UK;7. University of California, San Diego, and Rady Children's Hospital, San Diego, California;8. Pediatric Genetics, University of New Mexico, Albuquerque, New Mexico;9. Department of Medical Genetics, Hopital Necker Enfants Malades, Paris, France;10. Clinical Genetics, Guy's and St Thomas' Foundation Trust, London, UK;11. Unité de Génétique Médicale, CHU La Réunion, Réunion, France;12. Clinical Genetics, West of Scotland Genetics Service, Glasgow, UK;13. National Centre for Medical Genetics, Dublin, The Republic of, Ireland;14. Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, UK;15. Servico de Genetica, Hospital S Maria, Lisbon, Portugal;16. Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine, Osaka, Japan;17. Medical Genetics, St George's University of London, London, UK;18. Peninsula Clinical Genetics Service, Royal Devon and Exeter Foundation NHS Trust, Exeter, UK;19. Department of Clinical Genetics, Churchill Hospital, Oxford, UK;20. Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands;21. Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK;22. Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria;23. Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands;24. Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK;25. West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK;26. Centre de Génétique Humaine, Université de Franche‐Comté, Besan?on, France;27. Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK
Abstract:
Keywords:EZH2  Weaver syndrome  histone methyl transferases
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