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Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.

Human genomics - 12 Feb 2026

Romero Vanessa I, Armas Samaniego Martina, León Paúl, Arias-Almeida Benjamín, Sasaki Rino, Iwauchi Yoko, Hosomichi Kazuyoshi

Abstract excerpt

BACKGROUND: Wilson disease is a rare autosomal recessive disorder caused by variations in ATP7B, leading to copper accumulation and multisystemic damage. Diagnosis is often delayed due to its heterogeneous clinical presentation and limited genetic data in underrepresented populations. METHODS: We characterized ten Ecuadorian patients with clinical suspicion of Wilson disease using whole-exome sequencing (WES),...

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Identifiers

PMID: 41680931
DOI: 10.1186/s40246-026-00926-x
PMCID: PMC12998073

Genes

ATP7B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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