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Results 1 - 4 of 4 for Pontocerebellar hypoplasia type 4
  1. TSEN54 gene 
    ... PCH2A. Mutations in the TSEN54 gene also cause pontocerebellar hypoplasia type 4 (PCH4) and appear to be a rare cause ... Wilkinson C, Barnett CP. Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. Pediatr Neurol. 2011 Sep;45(3):185-8. ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  2. RARS2 gene 
    ... hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. doi: 10.1086/521227. Epub 2007 ... of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  3. EXOSC3 gene 
    ... Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: ... EXOSC3. Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371- ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  4. SEPSECS gene 
    ... a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2) in several families of Iraqi and ... cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44. doi: 10.1016/j.ajhg.2010. ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics