1. Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum. Issue 1 (December 2016) Authors: Lühl, S.; Bode, H.; Schlötzer, W.; Bartsakoulia, M.; Horvath, R.; Abicht, A.; Stenzel, M.; Kirschner, J.; Grünert, S. Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗