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Gail C. Jackson, Laureane Mittaz-Crettol, Jacqueline A. Taylor, Geert R. Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M. Hall, Amaka Offiah, Michael J. Wright, Ravi Savarirayan, Gen Nishimura, Simon C. Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl and Michael D. Briggs 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 Human Mutation 33

Article first published online: 31 OCT 2011 | DOI: 10.1002/humu.21611

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