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

Publication year
2015
Author(s)
Terhal, P.A.
Nievelstein, R.J.
Verver, E.J.
Topsakal, V.
Dommelen, P. van
Hoornaert, K.
Merrer, M. Le
Zankl, A.
Simon, M.E.
Smithson, S.F.
Marcelis, C.L.M.
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.
Mégarbané, A.
Lees, M.M.
Wilson, L.C.
Male, A.
Hurst, J.
Alanay, Y.
Annerén, 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.A.M.
Coucke, P.
Mortier, G.R.
Source
American Journal of Medical Genetics. Part A, 167A, 3, (2015), pp. 461-75
ISSN
DOI
Publication type
Article / Letter to editor
If a DOI or any other persistent identifier is unavailable, please use the following repository identifier to link to this item: https://hdl.handle.net/2066/153100   https://hdl.handle.net/2066/153100
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