Glycoproteomics and Functional Characterization of Novel Variants in Siblings with ALG1-CDG
Congenital disorders of glycosylation (CDGs) are a growing group of inborn errors caused by gene defects in glycan biosynthesis pathways. Genetic testing of two patients from the same family harboring ALG1-related CDG (ALG1-CDG) revealed heterozygous variations in the c.1129 A>C and c.1263+3 A>T. Although most CDGs wit...