Wilson disease: At the crossroads between genetics and epigenetics—A review of the evidence

Abstract excerpt

Environmental factors, including diet, exercise, stress, and toxins, profoundly impact disease phenotypes. This review examines how Wilson disease (WD), an autosomal recessive genetic disorder, is influenced by genetic and environmental inputs. WD is caused by mutations in the copper-transporter gene ATP7B , leading to the accumulation of copper in the liver and brain, resulting in hepatic, neurological, and...

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