A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

Terhal, P.A.; Nievelstein, R.J.A.J.; Verver, E.J.J.; Topsakal, V.; Dommelen, P. van; Hoornaert, K.; ... ; Mortier, G.R. (2015)

Article / Letter to editor

• spondyloepiphyseal dysplasia
• SEDC
• genotype-phenotype
• review
• COL2A1

• All authors: Terhal, P.A.; Nievelstein, R.J.A.J.; Verver, E.J.J.; Topsakal, V.; Dommelen, P. van; Hoornaert, K.; Merrer, M. le; Zankl, A.; Simon, M.E.H.; Smithson, S.F.; Marcelis, C.; Kerr, B.; Clayton-Smith, J.; Kinning, E.; Mansour, S.; Elmslie, F.; Goodwin, L.; Hout, A.H. van der; Veenstra-Knol, H.E.; Herkert, J.C.; Lund, A.M.; Hennekam, R.C.M.; Megarbane, A.; Lees, M.M.; Wilson, L.C.; Male, A.; Hurst, J.; Alanay, Y.; Anneren, G.; Betz, R.C.; Bongers, E.M.H.F.; Cormier-Daire, V.; Dieux, A.; David, A.; Elting, M.W.; Ende, J. van den; Green, A.; Hagen, J.M. van; Hertel, N.T.; Holder-Espinasse, M.; Hollander, N. den; Homfray, T.; Hove, H.D.; Price, S.; Raas-Rothschild, A.; Rohrbach, M.; Schroeter, B.; Suri, M.; Thompson, E.M.; Tobias, E.S.; Toutain, A.; Vreeburg, M.; Wakeling, E.; Knoers, N.V.; Coucke, P.; Mortier, G.R.
• Date: 2015-03-31
• Journal: American Journal of Medical Genetics Part A
• Volume: 167
• Issue: 3
• Pages: 461 - 475
• DOI: doi:10.1002/ajmg.a.36922