Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Molecular vision - 23 Jun 2010

Ali Manir, Buentello-Volante Beatriz, McKibbin Martin, Rocha-Medina J Alberto, Fernandez-Fuentes Narcis, Koga-Nakamura Wilson, Ashiq Aruna, Khan Kamron, Booth Adam P, Williams Grange, Raashid Yasmin, Jafri Hussain, Rice Aine, Inglehearn Chris F, Zenteno Juan Carlos

Abstract excerpt

PURPOSE: To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. METHODS: Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonography of the eyes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Coloboma
Share to Cornea

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family

Share to Forkhead Transcription Factors

Share to Mexico

Share to Microphthalmos

Share to Optic Disk

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 20664696
PMCID: PMC2901196

Genes

FOXE3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.PMID 20664696Read ↗

Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.Semantic proximity Read ↗

FOXE3 plays a significant role in autosomal recessive microphthalmia.Semantic proximity Read ↗

FOXE3 mutations: genotype-phenotype correlations.Semantic proximity Read ↗

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.Semantic proximity Read ↗

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.Semantic proximity Read ↗

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.Semantic proximity Read ↗

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.Semantic proximity Read ↗

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity ScreeningSemantic proximity Read ↗

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.Semantic proximity Read ↗

Lack of FOXE3 coding mutation in a case of congenital aphakia.Semantic proximity Read ↗

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.Semantic proximity Read ↗

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.