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Results 1 - 7 of 7 for Pontocerebellar hypoplasia type 6
  1. RARS2 gene 
    ... mutations cause a form of the disorder designated pontocerebellar hypoplasia type 6 (PCH6). One mutation has been found in an ... Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  2. Pontocerebellar hypoplasia 
    ... TYPE 3; PCH3 PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10 PONTOCEREBELLAR HYPOPLASIA, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  3. TSEN54 gene 
    ... Santorelli FM. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823-1. Epub 2011 Apr 6. No abstract available. Citation on PubMed van Dijk ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  4. TSEN2 gene 
    ... Bierhals T, Korenke GC, Uyanik G, Kutsche K. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013. ...
    https://medlineplus.gov/genetics/gene/tsen2 - Genetics
  5. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
    https://medlineplus.gov/cerebellardisorders.html - Health Topics
  6. EXOSC3 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from EXOSC3 gene ... Poll-The BT, Baas F. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  7. VRK1 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics