Review
Open access
Sep 2026
Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.
Pathogenic variants in the noncoding gene RNU4-2 cause ReNU syndrome, a common neurodevelopmental disorder. Although the core phenotype is well described, longitudinal symptom progression and family perspectives remain insufficiently characterized. We identified 11 individuals with RNU4-2 pathogenic variants through re...
Nadja Pekkola Pacheco, M. Kvarnung, A. Hammarsjö et al.
· Clinical Genetics · 0 citations