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

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

BACKGROUND: 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 a...

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Main Authors: Eggens, Veerle R.C (Author), Barth, Peter G. (Author), Niermeijer, Jikke-Mien F. (Author), Berg, Jonathan N. (Author), Darin, Niklas (Author), Dixit, Abhijit (Author), Fluss, Joel (Author), Foulds, Nicola (Author), Fowler, Darren (Author), Hortobágyi, Tibor (Author), Jacques, Thomas (Author), King, Mary D. (Author), Makrythanasis, Periklis (Author), Máté, Adrienn (Author), Nicoll, James A.R (Author), O'Rourke, Declan (Author), Price, Sue (Author), Williams, Andrew N. (Author), Wilson, Louise (Author), Suri, Mohnish (Author), Sztriha, Laszlo (Author), Dijns-de Wissel, Marit B. (Author), van Meegen, Mia T. (Author), van Ruissen, Fred (Author), Aronica, Eleonora (Author), Troost, Dirk (Author), Majoie, Charles B.L.M (Author), Marquering, Henk A. (Author), Poll-Thé, Bwee Tien (Author), Baas, Frank (Author)
Format: Article
Language:English
Published: 2014-02-13.
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