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

Author:

Jackson Gail C.12,Mittaz‐Crettol Laureane3,Taylor Jacqueline A.1,Mortier Geert R.4,Spranger Juergen5,Zabel Bernhard5,Le Merrer Martine6,Cormier‐Daire Valerie6,Hall Christine M.7,Offiah Amaka8,Wright Michael J.9,Savarirayan Ravi10,Nishimura Gen11,Ramsden Simon C.2,Elles Rob2,Bonafe Luisa3,Superti‐Furga Andrea3,Unger Sheila3,Zankl Andreas12,Briggs Michael D.1

Affiliation:

1. Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom

2. National Genetics Reference Laboratory, Manchester, United Kingdom

3. Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

4. Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium

5. Institute for Human Genetics and Center for Paediatrics and Adolescent Medicine, Freiburg, Germany

6. Hôpital Necker‐Enfants Malades, Paris, France

7. Great Ormond Street Hospital for Children, London, United Kingdom

8. Sheffield Children's Hospital, Sheffield, United Kingdom

9. Institute of Human Genetics, Newcastle‐upon‐Tyne, United Kingdom

10. Murdoch Children's Research Institute, Genetic Health Services Victoria and Department of Paediatrics, University of Melbourne, Melbourne, Australia

11. Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Centre, Japan

12. Bone Dysplasia Research Group, University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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