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Title

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

Authors
Eggens, Veerle Rc
Barth, Peter G
Niermeijer, Jikke-Mien F
Berg, Jonathan N
Darin, Niklas
Dixit, Abhijit
Foulds, Nicola
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Published in Orphanet Journal of Rare Diseases. 2014, vol. 9, p. 23
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/pathologyExosome Multienzyme Ribonuclease Complex/geneticsFemaleGenetic Association StudiesHumansMaleMutationOlivopontocerebellar Atrophies/geneticsRNA-Binding Proteins/genetics
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PMID: 24524299
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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. https://archive-ouverte.unige.ch/unige:55178

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Deposited on : 2015-04-07

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