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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
Authors :
Terhal, Paulien A. Nievelstein, Rutger Jan 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. Megarbane, Andre Lees, Melissa M. Wilson, Louise C. Male, Alison Hurst, Jane Alanay, Yasemin Anneren, Goeran 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. Terhal, Paulien A. Nievelstein, Rutger Jan 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. Megarbane, Andre Lees, Melissa M. Wilson, Louise C. Male, Alison Hurst, Jane Alanay, Yasemin Anneren, Goeran 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.
Publication Year :
2015
Details
Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1260774300
Document Type :
Electronic Resource