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Results 1 - 6 of 6 for Pontocerebellar hypoplasia type 1
  1. EXOSC3 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from EXOSC3 gene mutations, ... Poll-The BT, Baas F. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  2. TSEN54 gene 
    ... and appear to be a rare cause of pontocerebellar hypoplasia type 1 (PCH1).The most common mutation in the TSEN54 ... Santorelli FM. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol. 2011 May;121(5):671-3. ...
    https://medlineplus.gov/genetics/gene/tsen54 - Genetics
  3. RARS2 gene 
    ... characteristic features of another form of the condition, pontocerebellar hypoplasia type 1 (PCH1).The RARS2 gene mutations that cause pontocerebellar ...
    https://medlineplus.gov/genetics/gene/rars2 - Genetics
  4. VRK1 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene mutations, ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  5. TSEN2 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN2 gene ... 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
  6. TSEN34 gene 
    ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene ... The BT. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub ...
    https://medlineplus.gov/genetics/gene/tsen34 - Genetics