Article
Spectrum of Pathogenic Variants in ATP7B Gene Causing Wilson Disease in Mexican Patients.
Archives of medical research - 1 Jul 2026
Rivero-García Pamela, García-Juárez Ignacio, Peñafort-Zamora José Carlos, Campuzano-Estrada Isabel Del Carmen, Serrano Martin Pacheco, Kawakami-Campos Perla Ayumi, Arteaga-Vázquez Jazmín
Abstract excerpt
BACKGROUND: Wilson disease (WD) is a multisystemic disorder caused by a disturbance in copper homeostasis due to pathogenic biallelic variants in the ATP7B gene. AIM: To identify the pathogenic variants in the ATP7B gene in Mexican individuals with WD and describe their phenotypic presentation. METHODS: We included 19 individuals from 11 unrelated families with molecularly confirmed WD. RESULTS: 52.6% of the WD...
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