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Eur J Hum Genet. 2019 Jun 23. doi: 10.1038/s41431-019-0453-y. [Epub ahead of print]

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Author information

1
Department of Regeneration and Development, Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium. jaak.jaeken@kuleuven.be.
2
Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
3
Department of Human Genetics, KU Leuven, Leuven, Belgium.

Abstract

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

PMID:
31231132
DOI:
10.1038/s41431-019-0453-y

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