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Results 1 - 2 of 2 for Pontocerebellar "hypoplasia," type 14
  1. 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
  2. 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