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Article

The genetics of Wilson disease.

Handbook of clinical neurology - 1 Jan 2017

Chang Irene J, Hahn Si Houn

Abstract excerpt

Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due to the marked heterogeneity in age of onset and clinical presentation, the diagnosis of Wilson disease remains challenging to...

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PMID: 28433102
DOI: 10.1016/B978-0-444-63625-6.00003-3
PMCID: PMC5648646

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Source receipt: pubmed, retrieved 7 Sept 2026.

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