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

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