Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene
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Mucopolysaccharidoses (MPS) are a group of diseases caused by the accumulation of glycosaminoglycans (GAGs). Currently, eleven enzyme deficiencies have been described, with eight different MPS subtypes reported. MPS VII, also known as Sly syndrome, is a recess... ...
