Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.M7_D8delFs
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FOXE3

NM_012186.3:p.M7_D8delFs

Associated Papers

Concurrent mutations in DNAH5 and FOXE3 genes: a unique occurrence in infancy.

Krishnamurthy A et al.

Anatomy & Cell Biology, 2026

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Reis LM et al.

Human Molecular Genetics, 2021

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

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Islam L et al.

Human Mutation, 2015

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L et al.

European Journal of Human Genetics : Ejhg, 2011

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M et al.

Molecular Vision, 2010

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM et al.

American Journal of Medical Genetics. Part A, 2010

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU et al.

Human Mutation, 2009

Lack of FOXE3 coding mutation in a case of congenital aphakia.

Sano Y et al.

Ophthalmic Genetics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."