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Scientific article
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Published inOrphanet journal of rare diseases, vol. 9, 23
Publication date2014
Abstract

Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1.

Keywords
  • Brain/pathology
  • Exosome Multienzyme Ribonuclease Complex/genetics
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Mutation
  • Olivopontocerebellar Atrophies/genetics
  • RNA-Binding Proteins/genetics
Citation (ISO format)
EGGENS, Veerle Rc et al. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. In: Orphanet journal of rare diseases, 2014, vol. 9, p. 23. doi: 10.1186/1750-1172-9-23
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Article (Published version)
Identifiers
ISSN of the journal1750-1172
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