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