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Nosology and classification of genetic skeletal disorders: 2015 revision
Authors:Luisa Bonafe  Valerie Cormier‐Daire  Christine Hall  Ralph Lachman  Geert Mortier  Stefan Mundlos  Gen Nishimura  Luca Sangiorgi  Ravi Savarirayan  David Sillence  Jürgen Spranger  Andrea Superti‐Furga  Matthew Warman  Sheila Unger
Affiliation:1. Centre des Maladies Moléculaires CHUV, University of Lausanne, Switzerland;2. IMAGINE Institute, H?pital Necker Enfants Malade, Paris, France;3. Department of Radiology, Great Ormond Street Hospital, London, UK;4. International Skeletal Dysplasia Registry, University of California, Los Angeles, California;5. Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium;6. Institute for Medical Genetics and Human Genetics, Charité Universit?tsmedizin Berlin, Berlin, Germany;7. Max Planck Institute for Molecular Genetics, Berlin, Germany;8. Berlin‐Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany;9. Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan;10. Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy;11. Murdoch Childrens Research Institute and University of Melbourne, Parkville, Australia;12. Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia;13. Sinzheim, Germany;14. Department of Pediatrics,, CHUV, University of Lausanne, Switzerland;15. Orthopaedic Research Laboratories, Boston Children's Hospital Boston;16. Medical Genetics Service,, CHUV, University of Lausanne, Switzerland;17. Correspondence to:;18. Sheila Unger, Service of Medical Genetics, University of Lausanne, Av. Pierre Decker 2, Lausanne, 1011 Switzerland;19. E‐mail:
Abstract:
Keywords:skeletal dysplasias  nosology  molecular basis of disease  dwarfism
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