Rambam Hasharon syndrome (medical condition)

Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter. See also Congenital disorder of glycosylation type 2C

Chemwatch
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