Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Medico Salsench, E., Howaidi, J., … Kaya, N. (2020). Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathologica, 139(4), 791–794. https://doi.org/10.1007/s00401-020-02128-8