Associated Papers
Concurrent mutations in DNAH5 and FOXE3 genes: a unique occurrence in infancy.
Krishnamurthy A et al.
Anatomy & Cell Biology, 2026
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.
Plaisancié J et al.
Investigative Ophthalmology & Visual Science, 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Zafar A et al.
International Journal of Molecular Sciences, 2025
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
Akbar W et al.
The Journal of Gene Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Basharat R et al.
Genes, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM et al.
Human Molecular Genetics, 2021
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Ma A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
Khan SY et al.
Nature Communications, 2016
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Kuang SQ et al.
The Journal of Clinical Investigation, 2016
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Gillespie RL et al.
Human Heredity, 2014
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Jimenez NL et al.
Bmc Medical Genetics, 2011
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Ali M et al.
Molecular Vision, 2010
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.
Anjum I 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
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
Valleix S et al.
American Journal of Human Genetics, 2006
Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.
Saboo US et al.
Ophthalmic Genetics, 0
Lack of FOXE3 coding mutation in a case of congenital aphakia.
Sano Y et al.
Ophthalmic Genetics, 0