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

By Daniel Beltrán-Valero de Bernabé, S. Currier, A. Steinbrecher, J. Celli, E. van Beusekom, B. van der Zwaag, H. Kayserili, L. Merlini, D. Chitayat, W. Dobyns and 7 more. American Journal of Human Genetics, 2002

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Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/58c858e8a3e85d9dba198f9ebc7ed4c6997d6fa4