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Polymicrogyria and absence of pineal gland due to PAX6 mutationMITCHELL, Tejal N; FREE, Samantha L; WILLIAMSON, Kathleen A et al.Annals of neurology. 2003, Vol 53, Num 5, pp 658-663, issn 0364-5134, 6 p.Article

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humansSISODIYA, Sanjay M; FREE, Samantha L; VAN HEYNINGEN, Veronica et al.Nature genetics. 2001, Vol 28, Num 3, pp 214-216, issn 1061-4036Article

Prenatal diagnosis of aniridiaCHURCHILL, Amanda J; HANSON, Isabel M; MARKHAM, Alexander F et al.Ophthalmology (Rochester, MN). 2000, Vol 107, Num 6, pp 1153-1156, issn 0161-6420Article

Heterozygous mutations of OTX2 cause severe ocular malformationsRAGGE, Nicola K; BROWN, Alison G; RUDDLE, Piers et al.American journal of human genetics. 2005, Vol 76, Num 6, pp 1008-1022, issn 0002-9297, 15 p.Article

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaHENDERSON, R. Alex; WILLIAMSON, Kathy; CUMMING, Sally et al.European journal of human genetics. 2007, Vol 15, Num 8, pp 898-901, issn 1018-4813, 4 p.Article