A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype.
Beltrán-Valero de Bernabé, D.; van Bokhoven, H.; van Beusekom, E.; Van den Akker, W.; Kant, S.; Dobyns, W.B.; Cormand, B.; Currier, S.; Hamel, B.; Talim, B.; Topaloglu, H.; Brunner, H.G.; Journal of Medical Genetics, 2003, vol. 40, issue 11, p 845, ISSN 00222593. ISBN 14686244.

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