Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

E. Morava, D. J. Lefeber, Z. Urban, L. de Meirleir, P. Meinecke, G. Gillessen Kaesbach, J. Sykut-Cegielska, M. Adamowicz, I. Salafsky, J. Ranells, E. Lemyre, J. van Reeuwijk, H. G. Brunner, R. A. Wevers

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