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

Gail C. Jackson, Laureane Mittaz-Cretto, 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, Michael D. Briggs