Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders
Martina Riva, Sofia Ferreira, Vera P. Medvedeva, Frédéric Causeret, Olivia J. Henry, Charles‐Joris Roux, Céline Bellesme, Elena Freri, Elena Parrini, Dragana J. Josifova, Renzo Guerrini, Nadia Bahi‐Buisson, Alessandra Pierani
This study functionally characterizes RELN missense mutations in both recessive and dominant neuronal migration disorders, showing a genotype-phenotype correlation.
bioRxiv · May 25, 2021 · PreprintNeuroscience