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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
Statement of
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:
Appears in Collections:Aurora harvest 3
Paediatrics publications

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