Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleDefining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.AuthorsMorava E; Lefeber DJ; Urban Z; de Meirleir L; Meinecke P; Gillessen Kaesbach G; Sykut-Cegielska J; Adamowicz M; Salafsky I; Ranells J; Lemyre E; van Reeuwijk J; Brunner HG; Wevers RAPublicationEuropean journal of human genetics : EJHG, 2008, Vol 16, Issue 1, p28ISSN1018-4813Publication typearticleDOI10.1038/sj.ejhg.5201947