A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia. - Nicolle, Romain; Altin, Nami; Siquier-Pernet, Karine; Salignac, Sherlina; Blanc, Pierre; Munnich, Arnold; Bole-Feysot, Christine; Malan, Valérie; Caron, Barthélémy; Nitschké, Patrick; Desguerre, Isabelle; Boddaert, Nathalie; et al. (BMC Medical Genomics, 2023)