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

• 期刊名称American Journal of Medical Genetics Part A
• 作者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.
• 卷第167卷
• 期第3期
• 印刷ISSN1552-4825
• 文件大小1472.15KB
• 发表时间2015-03
• DOI10.1002/ajmg.a.36922
• 页码461-475