While mapping mutations in a single gene, researchers have uncovered a previously hidden neurodevelopmental condition.
Clinical collaborators have already diagnosed 38 individuals with this newfound condition, known as recessive ReNu syndrome.
www.crick.ac.uk/news/2026-04...
Geneticists have uncovered a previously hidden neurodevelopmental condition, showing how variations in a single gene can give rise to distinct disorders and deepening understanding of their biological...