RNU2-2 Deficiency: Rare Neurodevelopmental Disorder
A newly identified genetic cause of neurodevelopmental disorders (NDDs) – stemming from mutations in the RNU2-2 gene – is poised to reshape diagnostic pathways and potentially unlock novel therapeutic strategies. Researchers have, for the first time, definitively linked recessive mutations in RNU2-2 to a distinct NDD syndrome, demonstrating a surprisingly high prevalence within the 100,000 … Read more