Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome
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Purpose: Biallelic variants in the HGSNAT gene are associated with Sanfilippo syndrome, a rare lysosomal storage disorder caused by deficiency of heparan acetyl CoA glucosamine N-Acetyl-transferase enzyme(HGSNAT). The syndrome is... ...
