Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation

By Xiao Xueshan   Li Shiqiang   Zhang Qingjiong  

Ophthalmic Genetics, Vol. 33, Iss. 2, 2012-06 ,pp. : 119-121

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PAX6 3′ deletion in a family with aniridia

By Wawrocka Anna   Budny Bartlomiej   Debicki Szymon   Jamsheer Aleksander   Sowinska Anna   Krawczynski Maciej Robert  

Ophthalmic Genetics, Vol. 33, Iss. 1, 2012-03 ,pp. : 44-48

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Mutation Analysis of PAX6 in a Chinese Family and a Patient with a Presumed Sporadic Case of Congenital Aniridia

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Ophthalmic Research, Vol. 47, Iss. 1, 2011-06 ,pp. : 27-31

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Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation

By Bamiou Doris-Eva   Campbell Nicole   Musiek Frank   Taylor Rachael   Chong W. K.   Moore Anthony   van Heyningen Veronica   Free Samantha   Sisodiya Sanjay   Luxon Linda  

International Journal of Audiology, Vol. 46, Iss. 4, 2007-04 ,pp. : 196-202

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Novel and De-novo Truncating PAX6 Mutations and Ocular Phenotypes in Thai Aniridia Patients

By Atchaneeyasakul La-ongsri   Trinavarat Adisak   Dulayajinda Dhaivadee   Kumpornsin Kornphet   Thongnoppakhun Wanna   Yenchitsomanus Pa-thai   Limwongse Chanin  

Ophthalmic Genetics, Vol. 27, Iss. 1, 2006-03 ,pp. : 21-27

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