POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
van Reeuwijk, J.; Janssen, M.; van den Elzen, C.; Beifran-Valero de Bernabé, D.; Sabatelli, P.; Merlini, L.; Boon, M.; Scheffer, H.; Brockington, M.; Muntoni, F.; Huynen, M. A.; Verrips, A.; Walsh, C. A.; Barth, P. G.; Brunner, H. G.; van Bokhoven, H.; Journal of Medical Genetics, 2005, vol. 42, issue 12, p 907, ISSN 00222593. ISBN 14686244.

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