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Congenital pontocerebellar hypoplasia type 1
- ... Yourshaw M, Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. Citation ... course of pontocerebellar hypoplasia type 2A. Orphanet J Rare Dis. 2014 ...