Publication
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
Paulien A. Terhal, Rutger Jan A. J. Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen E. H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton‐Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra‐Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa M. Lees, Louise C. Wilson, Alison Male, Jane Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M. H. F. Bongers, Valerie Cormier‐Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder‐Espinasse, Nicolette den Hollander, Tessa Homfray, Hanne D. Hove, Susan Price, Annick Raas‐Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine V. Knoers, Paul Coucke, Geert R. Mortier
American Journal of Medical Genetics Part A, January 2015, Wiley
DOI: 10.1002/ajmg.a.36922