Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype
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DOI: 10.1002/mgg3.2117
Abstract: Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK‐induced CDG (FCSK–CDG) has only… read more here.
Keywords: disorder glycosylation; congenital disorder; fcsk; fcsk gene ... See more keywords