Journal article

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

  • Jackson, Gail C. National Genetics Reference Laboratory, Manchester, United Kingdom
  • Mittaz‐Crettol, Laureane Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
  • Taylor, Jacqueline A. Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom
  • Mortier, Geert R. Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium
  • Spranger, Juergen Institute for Human Genetics and Center for Paediatrics and Adolescent Medicine, Freiburg, Germany
  • Zabel, Bernhard Institute for Human Genetics and Center for Paediatrics and Adolescent Medicine, Freiburg, Germany
  • Le Merrer, Martine Hôpital Necker‐Enfants Malades, Paris, France
  • Cormier‐Daire, Valerie Hôpital Necker‐Enfants Malades, Paris, France
  • Hall, Christine M. Great Ormond Street Hospital for Children, London, United Kingdom
  • Offiah, Amaka Sheffield Children's Hospital, Sheffield, United Kingdom
  • Wright, Michael J. Institute of Human Genetics, Newcastle‐upon‐Tyne, United Kingdom
  • Savarirayan, Ravi Murdoch Children's Research Institute, Genetic Health Services Victoria and Department of Paediatrics, University of Melbourne, Melbourne, Australia
  • Nishimura, Gen Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Centre, Japan
  • Ramsden, Simon C. National Genetics Reference Laboratory, Manchester, United Kingdom
  • Elles, Rob National Genetics Reference Laboratory, Manchester, United Kingdom
  • Bonafe, Luisa Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
  • Superti‐Furga, Andrea Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
  • Unger, Sheila Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
  • Zankl, Andreas Bone Dysplasia Research Group, University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia
  • Briggs, Michael D. Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom
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  • 2011-10-31
Published in:
  • Human Mutation. - Wiley. - 2011, vol. 33, no. 1, p. 144-157
Language
  • English
Open access status
bronze
Identifiers
Persistent URL
https://sonar.ch/global/documents/46324
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