Reposted by Simon Lowe
I've been a bit slow to post about this, but our work on RBL2-linked disease is now available online in #Brain. We provide a comprehensive characterisation of clinical phenotypes, and explore the neurological function of the #Drosophila orthologue, Rbf. (1/2) doi.org/10.1093/brai...
doi.org
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
RBL2 dysfunction, which disrupts cell-cycle gene expression, has been linked to a severe neurodevelopmental disorder. Aughey et al. characterize a cohort o
