Article
An incidental heterozygous ATP7B nonsense variant leading to a diagnostic pitfall for Wilson disease: a pediatric case report
2026-02-19
Abstract excerpt
<title>Abstract</title> <p> <bold>Background</bold> Wilson disease (WD) is an autosomal recessive disorder caused by pathogenic variants in ATP7B, resulting in impaired copper transport and progressive copper accumulation, most prominently affecting the liver. With the growing use of genetic testing, incidental detection of ATP7B pathogenic/likely pathogenic variants in individuals without typical hepatic pheno...
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Identifiers and source
- Literature Corpus work
- c5a0a70a-4a09-58bf-93bf-11aabf792630
- DOI
- 10.21203/rs.3.rs-8649506/v1