Associated Papers
Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation.
Nava J et al.
Stem Cell Research, 2025
Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population.
García-Montalvo IA et al.
Frontiers in Genetics, 2025
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM et al.
Human Molecular Genetics, 2021
34046667 (PubMed )
Supplement: supplemental_files_revised_ddab142.pdf
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Quiroz-Casian N et al.
Cornea, 2018
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J et al.
Clinical Genetics, 2018
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Anand D et al.
Human Mutation, 2018
Mutational screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in congenital ocular malformations. Possible contribution of the FOXE3 p.VAL201MET variant to the risk of severe eye malformations.
Garcia-Montalvo IA et al.
Ophthalmic Genetics, 2014
An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.
Pantoja-Melendez C et al.
Molecular Vision, 2013
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Ali M et al.
Molecular Vision, 2010
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