Publication | Open Access

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Signal TransductionGlycosylationAltered Proteoglycan GlycosylationDisrupted Vesicular TraffickingGlycobiologyPathologyMolecular BiologySaul-wilson SyndromeProtein TransportIntracellular TraffickingMedicineCell BiologyConnective Tissue DiseaseSecretory Pathway