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Comment

. 2008 Jan;16(1):2-4.

doi: 10.1038/sj.ejhg.5201962.

Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons

David J Coman¹

Affiliations

Affiliation

¹ Department of Paediatrics, University of Melbourne, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Victoria 3052, Australia. david.coman@ghsv.org.au

PMID: 18075505
DOI: 10.1038/sj.ejhg.5201962

Comment

Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons

David J Coman. Eur J Hum Genet. 2008 Jan.

. 2008 Jan;16(1):2-4.

doi: 10.1038/sj.ejhg.5201962.

Author

David J Coman¹

Affiliation

¹ Department of Paediatrics, University of Melbourne, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Victoria 3052, Australia. david.coman@ghsv.org.au

PMID: 18075505
DOI: 10.1038/sj.ejhg.5201962

No abstract available

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Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
Morava 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 RA. Morava E, et al. Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. Epub 2007 Oct 31. Eur J Hum Genet. 2008. PMID: 17971833

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