» Articles » PMID: 35791194

A Rare Case of Congenital Aniridia with an Unusual Run-on Mutation in Gene

Overview
Specialty Ophthalmology
Date 2022 Jul 6
PMID 35791194
Authors
Affiliations
Soon will be listed here.
References
1.
Vasilyeva T, Marakhonov A, Voskresenskaya A, Kadyshev V, Kasmann-Kellner B, Sukhanova N . Analysis of genotype-phenotype correlations in -associated aniridia. J Med Genet. 2020; 58(4):270-274. DOI: 10.1136/jmedgenet-2019-106172. View

2.
Chao L, Mishra R, Strong L, Saunders G . Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat. 2003; 21(2):138-45. DOI: 10.1002/humu.10163. View

3.
Vasilyeva T, Voskresenskaya A, Kasmann-Kellner B, Khlebnikova O, Pozdeyeva N, Bayazutdinova G . Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. Clin Genet. 2017; 92(6):639-644. DOI: 10.1111/cge.13019. View

4.
Souzeau E, Rudkin A, Dubowsky A, Casson R, Muecke J, Mancel E . molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. Mol Vis. 2018; 24:261-273. PMC: 5873721. View

5.
Vanita V, Singh D, Robinson P, Sperling K, Singh J . A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A. 2006; 140(6):558-66. DOI: 10.1002/ajmg.a.31126. View