Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

Eur J Hum Genet. 2018 May;26(5):618-621. doi: 10.1038/s41431-017-0044-8. Epub 2017 Nov 30.

Peter Witters^{1

2}, Jeroen Breckpot³, François Foulquier⁴, Graem Preston⁵, Jaak Jaeken⁶, Eva Morava^{6

7

5}

¹ Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium. peter.witters@uzleuven.be.
² Department of Development and Regeneration, Organ systems cluster, Faculty of Medicine, KU Leuven, Leuven, B-3000, Belgium. peter.witters@uzleuven.be.
³ Center for Human Genetics, Catholic University Leuven, Leuven, B-3000, Belgium.
⁴ Université Lille, Centre National de la Recherche Française, UMR 8576-Unité de Glycobiologie Structurale et Fonctionnelle-Unité de Glycobiologie Structurale et Fonctionnelle, Lille, F-59000, France.
⁵ Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, 70112, USA.
⁶ Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium.
⁷ Department of Development and Regeneration, Organ systems cluster, Faculty of Medicine, KU Leuven, Leuven, B-3000, Belgium.

No abstract available

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