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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...

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Identifiers

PMID: 20664696
PMCID: PMC2901196

Genes

FOXE3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20664696-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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