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Recent developments in neurofibromatoses and RASopathies: Management,diagnosis and current and future therapeutic avenues
Authors:Katherine A Rauen  Susan M Huson  Emma Burkitt‐Wright  D Gareth Evans  Said Farschtschi  Rosalie E Ferner  David H Gutmann  C Oliver Hanemann  Bronwyn Kerr  Eric Legius  Luis F Parada  Michael Patton  Juha Peltonen  Nancy Ratner  Vincent M Riccardi  Thijs van der Vaart  Miikka Vikkula  David H Viskochil  Martin Zenker  Meena Upadhyaya
Institution:1. MIND Institute, University of California at Davis, Sacramento, California;2. St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK;3. Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester, UK;4. Department of Neurology, University Medical Centre Hamburg‐Eppendorf Hospital, Hamburg, Germany;5. Guy's & St. Thomas' NHS Foundation Trust London & Institute of Psychiatry, King's College, London, UK;6. Department of Neurology, Washington University, St. Louis, Missouri;7. Center for Biomedical Research Translational and Stratified Medicine, Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth, UK;8. Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium;9. Department of Developmental Medicine, University of Texas, Dallas, Texas;10. Human Genetics Research Center, St. Georges University, London, UK;11. Department of Biology and Anatomy, University of Turku, Turku, Finland;12. Division of Experimental Haematology and Cancer Biology, University of Cincinnati, Cincinnati, Ohio;13. The Neurofibromatosis Institute, La Crescenta, California;14. Erasmus MC, University Medical Centre, Rotterdam, The Netherlands;15. de duve Institut, Université catholique de Louvain, Brussels, Belgium;16. Division of Medical Genetics, University of Utah, Salt Lake City, Utah;17. Institut fur Humangenetik, University Hospital Magdeburg, Magdeburg, Germany;18. Institute of Cancer and Genetics, Cardiff University, Cardiff, UK
Abstract:
Keywords:capillary malformation–  AV malformation syndrome  cardio‐facio‐cutaneous syndrome  Costello syndrome  neurofibromatosis  Noonan syndrome  Legius syndrome  Ras/MAPK  signal transduction pathway  RASopathy  therapy
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