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Pontocerebellar hypoplasia type 7
- ... 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 ...