Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

by Cotterill, Sally L, Jackson, Gail C, Leighton, Matthew P, Wagener, Raimund, Mäkitie, Outi, Cole, William G, Briggs, Michael D
Published 2005

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

by Jackson, Gail C, Marcus-Soekarman, Dominique, Stolte-Dijkstra, Irene, Verrips, Aad, Taylor, Jacqueline A, Briggs, Michael D
Published 2010

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate A...

by Jackson, Gail C, Mittaz-Crettol, Laureane, Taylor, Jacqueline A, Mortier, Geert R, Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Offiah, Amaka, Wright, Michael J, Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C, Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D
Published 2012