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

Morava, E; Lefeber, D J; 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, H G; Wevers, R A

Morava, E; Lefeber, D J; 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, H G; Wevers, R A.

Affiliation

Morava E; Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl

Eur J Hum Genet ; 16(1): 28-35, 2008 Jan.

Article in En | MEDLINE | ID: mdl-17971833

Subject(s)

Abnormalities, Multiple/genetics; Cutis Laxa/diagnosis; Cutis Laxa/genetics; Glycosylation; Metabolism, Inborn Errors/diagnosis; Abnormalities, Multiple/metabolism; Abnormalities, Multiple/pathology; Child; Child, Preschool; Cutis Laxa/congenital; Female; Genes, Recessive; Humans; Infant; Male; Metabolism, Inborn Errors/genetics; Metabolism, Inborn Errors/metabolism; Pedigree; Phenotype; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Glycosylation / Cutis Laxa / Metabolism, Inborn Errors Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2008 Type: Article Affiliation country: Netherlands

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