Genetic findings in ten Ecuadorian patients with suspected Wilson’s disease

This study provides an integrated clinical, molecular, and ancestry framework for characterizing Wilson disease in an underrepresented population. The identification of regionally recurrent ATP7B variants, together with the diversity of clinical presentations, highlights the need for comprehensive diagnostic approaches in admixed populations. Larger studies incorporating segregation and functional assays will be essential to refine variant interpretation and improve access to molecular diagnosis in Latin America.