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Results 1 - 2 of 2 for Pontocerebellar hypoplasia type 1
  1. Pontocerebellar hypoplasia 
    ... 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 ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. CASK-related intellectual disability 
    ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: ... mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047- ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics