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

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.

doi:10.1002/ajmg.a.36922

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

Date

2015

Authors

Terhal, P.

Nievelstein, R.

Verver, E.

Topsakal, V.

van Dommelen, P.

Hoornaert, K.

Le Merrer, M.

Zankl, A.

Simon, M.

Smithson, S.

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Journal article

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American Journal of Medical Genetics, Part A, 2015; 167(3):461-475

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Paulien A. Terhal ... Elizabeth M. Thompson ... et al.

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10.1002/ajmg.a.36922

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Abstract not available

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Article first published online: 21 JAN 2015

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https://doi.org/10.1002/ajmg.a.36922

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http://hdl.handle.net/2440/98581

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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

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