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Phenomics · 2026 · Springer
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired ciliary motility that leads to respiratory symptoms, laterality defects, and other systemic abnormalities. Despite significant advancements in genetic research identifying over 50 causative genes and enabling genetic diagnosis in approximately 90% of cases, comprehensive phenotypic characterization remains underexplored. We investigated two r...