Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.
Mariateresa Di StazioStefania BigoniNicola IusoJosef VuchRita SelvaticiSheila UliviAdamo Pio D'AdamoPublished in: Brain sciences (2021)
We detected a loss-of-function RSK2 mutation with loss in kinase activity in a three-generation family with an X-linked ID.