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

Journal article
Authors Veerle Rc Eggens
Peter G Barth
Jikke-Mien F Niermeijer
Jonathan N Berg
Niklas Darin
Abhijit Dixit
Joel Fluss
Nicola Foulds
Darren Fowler
Tibor Hortobágyi
Thomas Jacques
Mary D King
Periklis Makrythanasis
Adrienn Máté
James Ar Nicoll
Declan O Rourke
Sue Price
Andrew N Williams
Louise Wilson
Mohnish Suri
Laszlo Sztriha
Marit B Dijns-de Wissel
Mia T van Meegen
Fred van Ruissen
Eleonora Aronica
Dirk Troost
Charles Blm Majoie
Henk A Marquering
Bwee Tien Poll-Thé
Frank Baas
Published in Orphanet journal of rare diseases
Volume 9
Issue 1
Pages 23
ISSN 1750-1172
Publication year 2014
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 23
Language en
Subject categories Pediatrics


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.

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