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

P.A. Terhal, R.J.A.J. Nievelstein, E.J.J. Verver, V. Topsakal, P. van Dommelen, K. Hoornaert, M. Le Merrer, A. Zankl, M.E.H. Simon, S.F. Smithson, C. Marcelis, B. Kerr, J. Clayton-Smith, E. Kinning, S. Mansour, F. Elmslie, L. Goodwin, A.H. van der Hout, H.E. Veenstra-Knol, J.C. HerkertA.M. Lund, R.C.M. Hennekam, A. Megarbane, M.M. Lees, L.C. Wilson, A. Korteland-van Male, J. Hurst, Y. Alanay, G. Anneren, R.C. Betz, E.M.H.F. Bongers, V. Cormier-Daire, A. Dieux, A. David, M.W. Elting, J.. van den Ende, A. Green, J.M. van Hagen, N.T. Hertel, M. Holder-Espinasse, N. den Hollander, T. Homfray, H.D. Hove, S. Price, A. Raas-Rothschild, M. Rohrbach, B. Schroeter, M. Suri, E.M. Thompson, E.S. Tobias, A. Toutain, M. Vreeburg, E. Wakeling, N.V. Knoers, P. Coucke, G.R. Mortier

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)461-475
JournalAmerican Journal of Medical Genetics Part A
Volume167
Issue number3
DOIs
Publication statusPublished - 2015

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