Condition: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B


rs141138948 in EXOSC3 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 1B PMID 29656927 2018 Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.

PMID 23975261 2013 Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

PMID 22544365 2012 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

PMID 24524299 2014 EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

PMID 23564332 2013 EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

PMID 25809939 2015 A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

rs672601332 in EXOSC3;TRMT10B gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 1B PMID 22544365 2012 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.