Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/98581
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dc.contributor.authorTerhal, P.en
dc.contributor.authorNievelstein, R.en
dc.contributor.authorVerver, E.en
dc.contributor.authorTopsakal, V.en
dc.contributor.authorvan Dommelen, P.en
dc.contributor.authorHoornaert, K.en
dc.contributor.authorLe Merrer, M.en
dc.contributor.authorZankl, A.en
dc.contributor.authorSimon, M.en
dc.contributor.authorSmithson, S.en
dc.contributor.authorMarcelis, C.en
dc.contributor.authorKerr, B.en
dc.contributor.authorClayton-Smith, J.en
dc.contributor.authorKinning, E.en
dc.contributor.authorMansour, S.en
dc.contributor.authorElmslie, F.en
dc.contributor.authorGoodwin, L.en
dc.contributor.authorvan der Hout, A.en
dc.contributor.authorVeenstra-Knol, H.en
dc.contributor.authorHerkert, J.en
dc.contributor.authoret al.en
dc.date.issued2015en
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2015; 167(3):461-475en
dc.identifier.issn1552-4825en
dc.identifier.issn1552-4833en
dc.identifier.urihttp://hdl.handle.net/2440/98581-
dc.descriptionArticle first published online: 21 JAN 2015en
dc.description.abstractAbstract not availableen
dc.description.statementofresponsibilityPaulien A. Terhal ... Elizabeth M. Thompson ... et al.en
dc.language.isoenen
dc.publisherWileyen
dc.rights© 2015 Wiley Periodicals, Inc.en
dc.subjectspondyloepiphyseal dysplasia; SEDC;genotype–phenotype; review; COL2A1en
dc.titleA study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypeen
dc.typeJournal articleen
dc.identifier.rmid0030036597en
dc.identifier.doi10.1002/ajmg.a.36922en
dc.identifier.pubid173731-
pubs.library.collectionPaediatrics publicationsen
pubs.library.teamDS03en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Paediatrics publications

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