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Wilson’s Disease—Genetic Puzzles with Diagnostic Implications

29 Mar 2023

Abstract excerpt

(1) Introduction: Wilson’s disease (WND) is an autosomal recessive disorder of copper metabolism. The WND gene is ATP7B, located on chromosome 13. WND is characterized by high clinical variability, which causes diagnostic difficulties. (2) Methods: The PubMed, Science Direct, and Wiley Online Library medical databases were reviewed using the following phrases: “Wilson’s disease”, “ATP7B genotype”,...

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PMID: 37046505
DOI: 10.3390/diagnostics13071287

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