ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature - European Journal of Human Genetics European Journal of Human Genetics - ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

📢 Rare #ARID2 variants cause a #neurodevelopmental disorder with developmental delay, ID, behavioural issues, and dysmorphic features.
A unique DNA methylation episignature may help reclassify #VUS and refine diagnosis. 🧬

🔗 www.nature.com/articles/s41...