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Results 1 - 3 of 3 for Pontocerebellar "hypoplasia," type 12
  1. Pontocerebellar hypoplasia 
    ... 10.1002/ajmg.c.31403. Epub 2014 Jun 12. Citation on PubMed ... hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. VRK1 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene ... 5):2451-64. doi: 10.1091/mbc.e05-12-1179. Epub 2006 Feb 22. Citation on PubMed or ... atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  3. CASK-related intellectual disability 
    ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: ... doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics