A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D. J Hum Genet.2015 Jul;60(7):363-9.