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

Veerle R. C. 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 A. R. Nicoll, Declan O'Rourke, Sue Price, Andrew N. Williams, Louise Wilson, Mohnish SuriLaszlo Sztriha, Marit B. Dijns-De Wissel, Mia T. Van Meegen, Fred Van Ruissen, Eleonora Aronica, Dirk Troost, Charles B. L. M. Majoie, Henk A. Marquering, Bwee Tien Poll-Thé, Frank Baas (Lead / Corresponding author)

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    Biochemistry, Genetics and Molecular Biology

    Neuroscience