PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.
Sisodiya SM; Free SL; Williamson KA; Mitchell TN; Willis C; Stevens JM; Kendall BE; Shorvon SD; Hanson IM; Moore AT; van Heyningen V; Nature Genetics, 2001, vol. 28, issue 3, p 214, ISSN 10614036. ISBN 10614036.

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