Article
Exploring the pathogenesis of a compound heterozygous variant in ATP7B associated with Wilson disease in an Iranian family.
Molecular biology reports - 13 May 2026
Hasani Elaheh, Kohkalani Moein, Naghinejad Maryam, Derakhshan Sima Mansoori, Khaniani Mahmoud Shekari, Taheri Mohammad
Abstract excerpt
BACKGROUND: Wilson disease (WD) is a hereditary autosomal recessive disorder of copper metabolism, which results from mutations in the ATP7B gene. It is a monogenic disorder characterized by significant clinical heterogeneity in patients with renal, ocular, hepatic, and neurological involvement, complicating its clinical diagnosis. This study involves examination of an Iranian family with a child diagnosed with...
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