Author:
Thomas Mervyn G.,Gottlob Irene
Publisher
Springer International Publishing
Reference20 articles.
1. Hingorani M, Williamson KA, Moore AT, Van Heyningen V (2009) Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci 50(6):2581–2590
2. Gronskov K, Rosenberg T, Sand A, Brondum-Nielsen K (1999) Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet: EJHG 7(3):274–286
3. Nallathambi J, Neethirajan G, Shashikant S, Vijayalakshmi P, Sundaresan P (2006) PAX6 missense mutations associated in patients with optic nerve malformation. Mol Vis 12:236–242
4. Dansault A, David G, Schwartz C et al (2007) Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. Mol Vis 13:511–523
5. Thomas S, Thomas MG, Andrews C et al (2014) Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Eur J Hum Genet: EJHG 22(3):344–349