TY  - GEN
AU  - Jaeken,Jaak
AU  - Lefeber,Dirk J
AU  - Matthijs,Gert
TI  - Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation
SN  - 1476-5438
PY  - 2020///0720
KW  - Congenital Disorders of Glycosylation
KW  - diagnosis
KW  - Genetic Predisposition to Disease
KW  - genetics
KW  - Genotype
KW  - Humans
KW  - Mutation
KW  - Phosphoglucomutase
KW  - Risk Assessment
KW  - Sensitivity and Specificity
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41431-019-0453-y
ER  -