Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Mohammed AlMuhaizeaRawan AlMassAljouhra AlHarganAnoud AlBaderEva Medico SalsenchJude HowaidiJacie IhingerPeter KarachunskiAmber BegtrupMonica Segura CastellPeter BauerAida Bertoli-AvellaIbrahim H KayaJumanah AlSufayanLaila AlQuaitAziza ChedrawiStefan T AroldDilek ColakTahsin Stefan BarakatNamik KayaPublished in: Acta neuropathologica (2020)