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

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.

SUBMITTER: Jaeken J

PROVIDER: S-EPMC6871091 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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

Jaeken Jaak J Lefeber Dirk J DJ Matthijs Gert G

European journal of human genetics : EJHG 20190623 11

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. ...[more]

PMID: 31231132

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