Associated Papers
PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Yang L et al.
Frontiers in Immunology, 2024
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuéllar G et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A et al.
American Journal of Human Genetics, 2014
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