Adelaide Research & Scholarship
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https://hdl.handle.net/2440/98581
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| Type: | Journal article |
| Title: | 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 |
| Author: | Terhal, P. Nievelstein, R. Verver, E. Topsakal, V. van Dommelen, P. Hoornaert, K. Le Merrer, M. Zankl, A. Simon, M. Smithson, S. Marcelis, C. Kerr, B. Clayton-Smith, J. Kinning, E. Mansour, S. Elmslie, F. Goodwin, L. van der Hout, A. Veenstra-Knol, H. Herkert, J. et al. |
| Citation: | American Journal of Medical Genetics Part A, 2015; 167(3):461-475 |
| Publisher: | Wiley |
| Issue Date: | 2015 |
| ISSN: | 1552-4825 1552-4833 |
| Statement of Responsibility: | Paulien A. Terhal ... Elizabeth M. Thompson ... et al. |
| Abstract: | Abstract not available |
| Keywords: | spondyloepiphyseal dysplasia; SEDC;genotype–phenotype; review; COL2A1 |
| Description: | Article first published online: 21 JAN 2015 |
| Rights: | © 2015 Wiley Periodicals, Inc. |
| DOI: | 10.1002/ajmg.a.36922 |
| Published version: | http://dx.doi.org/10.1002/ajmg.a.36922 |
| Appears in Collections: | Aurora harvest 3 Paediatrics publications |
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