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Results 1 - 8 of 8 for Pontocerebellar hypoplasia type 8
  1. Pontocerebellar hypoplasia 
    ... TYPE 10; PCH10 PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9 PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7 PONTOCEREBELLAR HYPOPLASIA, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. TSEN54 gene 
    ... Wilkinson C, Barnett CP. Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. Pediatr Neurol. 2011 Sep;45(3):185-8. doi: 10.1016/j.pediatrneurol.2011.05.009. ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  3. TSEN2 gene 
    ... hypoplasia. Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004.2009.01186_3.x. No abstract available. Citation on PubMed Bierhals T, Korenke GC, Uyanik G, Kutsche K. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and ...
    https://medlineplus.gov/genetics/gene/tsen2 - Genetics
  4. RARS2 gene 
    ... Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia ... May 8. Citation on PubMed Edvardson S, Shaag A, Kolesnikova ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  5. 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
  6. TSEN34 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene ... Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004.2009.01186_ ...
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics
  7. SEPSECS gene 
    ... to cause a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2) in several families of Iraqi and Moroccan ancestry. When PCH2 results from mutations in the SEPSECS gene, it is sometimes ... hypoplasia. Researchers also refer to PCH2D as progressive ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  8. 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