Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

• Margot E. Bowen ,

  Contributed equally to this work with: Margot E. Bowen, Eric D. Boyden

  Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

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• Eric D. Boyden ,

  Contributed equally to this work with: Margot E. Bowen, Eric D. Boyden

  Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

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• Ingrid A. Holm,

  Affiliations Division of Genetics, Program in Genomics, and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America

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• Belinda Campos-Xavier,

  Affiliation Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

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• Luisa Bonafé,

  Affiliation Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

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• Andrea Superti-Furga,

  Affiliation Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

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• Shiro Ikegawa,

  Affiliation Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan

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• Valerie Cormier-Daire,

  Affiliation Department of Medical Genetics, Paris Descartes University, INSERM U781, Hôpital Necker Enfants Malades, Paris, France

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• Judith V. Bovée,

  Affiliation Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands

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• Twinkal C. Pansuriya,

  Affiliation Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands

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• Sérgio B. de Sousa,

  Affiliation Department of Medical Genetics, Hospital Pediátrico de Coimbra, Coimbra, Portugal

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• Ravi Savarirayan,

  Affiliations Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia, Department of Pediatrics, University of Melbourne, Melbourne, Australia

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• Elena Andreucci,

  Affiliations Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia, Department of Pediatrics, University of Melbourne, Melbourne, Australia, Department of Clinical Pathophysiology, University of Florence and Meyer Children's Hospital Genetics Unit, Florence, Italy

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• Miikka Vikkula,

  Affiliation de Duve Institute, Université Catholique de Louvain, Brussels, Belgium

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• Livia Garavelli,

  Affiliation Department of Clinical Genetics, Arcispedale S. Maria Nuova, Reggio Emilia, Italy

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• Caroline Pottinger,

  Affiliation Merseyside and Chesire Regional Genetics Service, Alder Hey Hospital, Liverpool, United Kingdom

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• Toshihiko Ogino,

  Affiliation Department of Orthopaedic Surgery, Yamagata University Faculty of Medicine, Yamagata, Japan

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• Akinori Sakai,

  Affiliation Department of Orthopaedic Surgery, University of Occupational and Environmental Health, Kitakyushu, Japan

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• Bianca M. Regazzoni,

  Affiliation Department of Pediatrics, S. Anna Hospital, Lugano, Switzerland

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• Wim Wuyts,

  Affiliation Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

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• Luca Sangiorgi,

  Affiliation Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy

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• Elena Pedrini,

  Affiliation Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy

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• Mei Zhu,

  Affiliations Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

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• Harry P. Kozakewich,

  Affiliation Department of Pathology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America

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• James R. Kasser,

  Affiliation Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America

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• Jon G. Seidman,

  Affiliations Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

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• Kyle C. Kurek ,

  * E-mail: kyle.kurek@childrens.harvard.edu

  Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Department of Pathology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America

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•  [ ... ],
• Matthew L. Warman

  Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

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