Abstract

The earliest characteristic of the liver in Wilson disease (WD) includes steatosis. A genetic polymorphism in rs738409, in the patatin-like phospholipase domain (PNPLA3), seems to have a role in NAFLD and a recent paper also support its influence in steatosis in WD patients. This study evaluated the role of PNPLA3 variant in large cohort of WD patients as potential modifiers of metabolic syndrome and neurologic phenotype.

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