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Clinical characteristics and genetic features of patients with Wilson's disease in southwestern China.

Orphanet journal of rare diseases - 3 Jun 2026

Zhang Lu, Dong Yao, Peng Jieru, Yang Denghui, Pang Bing, Tan Zhuo, Zhang Qiwen, Li Zhong, Yang Dailan, Liao Juan, Yang Chunxia

Abstract excerpt

BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper metabolism dysfunction. The clinical and genetic manifestations of WD vary across populations. This study aimed to characterize the clinical features and genetic mutations in WD patients from southwestern China and to explore genotype-phenotype correlations. METHODS: A total of 120 WD...

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Identifiers

PMID: 42237336
DOI: 10.1186/s13023-026-04426-y
PMCID: PMC13455313

Genes

ATP7B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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