Open access
Sep 2026
Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort
The findings identify structural PKD2 variation as an under-recognized cause of genetically unresolved late-onset ADPKD and demonstrate that phenotype-guided incorporation of copy number analysis can overcome limitations of NGS alone.
Akrivi Papachristopoulou, Angeliki Margoni, A. Simoudis et al.
· Medicina · 0 citations