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

Research output: Contribution to journal › Article › peer-review

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- Title(descending)

Identification of genes and mutations in genetic skeletal diseases leads to improved diagnosis and counselling through an international clinical and DNA diagnostic network
Michael Briggs (Participant), Kathryn Chapman (Participant), Paul Holden (Participant) & Gail Jackson (Participant)
Impact: Health impacts, Economic impacts

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

Impacts

Search results

Identification of genes and mutations in genetic skeletal diseases leads to improved diagnosis and counselling through an international clinical and DNA diagnostic network