From left to right, Mónica Centeno, Aina Prat, Juan Diego Gutiérrez, Susanna Balcells and Raquel Rabionet, members of the UB, the BUB, the IRSJD and the CIBERER. Mutations in the MAGEL2 gene, which ...
Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to ...