Publication | Open Access

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Rare DiseasesActive Site VariantsMendelian DisorderGenetic DisorderMedicineGeneticsGlycobiologyMolecular BiologyPathologyNeuromusculoskeletal FindingsNeuromusculoskeletal DisorderNeuromuscular PathologyDominant TypeGlycosylation