Polymicrogyria and absence of pineal gland due to PAX6 mutation (2003)
Mitchell, T.J., Free, S.L., Williamson, K.A., Stevens, J.M., Churchill, A.J., Hanson, I.M., ...
Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability....
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans (2001)
Sisodiya, S.M., Free, S.L., Williamson, K.A., Mitchell, T.J., Willis, C., Stevens, J.M., ...
PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye1. Magnetic resonance imaging (MRI) and...