Exploratory associations of candidate modifier variants with disease severity, age at onset, and drug response in three Wilson disease patients sharing the same ATP7B mutation.

Abstract excerpt

BACKGROUND: Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in ATP7B, leading to impaired copper metabolism. Although WD is classically considered a monogenic disease, patients carrying identical ATP7B mutations frequently exhibit striking variability in clinical presentation, age at onset, and treatment outcomes. This heterogeneity is thought to be shaped by variants in modifier...

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