A new association of PAX6 variation with Juvenile onset open angle glaucoma
Author:
Funder
Indian Council of Medical Research
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01115-z.pdf
Reference20 articles.
1. Gupta V, Somarajan BI, Gupta S, Chaurasia AK, Kumar S, Dutta P, et al. The inheritance of juvenile onset primary open angle glaucoma. Clin Genet. 2017;92:134–42.
2. Selvan H, Gupta S, Wiggs JL, Gupta V. Juvenile-onset open-angle glaucoma—A clinical and genetic update. Surv Ophthalmol. 2022;67:1099–117.
3. Knight LSW, Ruddle JB, Taranath DA, Goldberg I, Smith JEH, Gole G, et al. Childhood and early onset glaucoma classification and genetic profile in a large Australasian disease registry. Ophthalmology 2021;128:1549–60.
4. Wiggs JL. Glaucoma genes and mechanisms. Prog Mol Biol Transl Sci. 2015;134:315–42.
5. Singh S, Chao LY, Mishra R, Davies J, Saunders GF. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet. 2001;10:911–8.
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