Article

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.

American journal of medical genetics. Part A - 1 Mar 2015

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