Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

Daniel Beltrán Valero De Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen Van Beusekom, Bert Van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana Elina Lehesjoki, Jesús Cruces, Thomas Voit, Christopher A. Walsh, Hans Van Bokhoven, Han G. Brunner

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Biochemistry, Genetics and Molecular Biology