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Article

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.

Molecular vision - 1 Jan 2014

Reis Linda M, Tyler Rebecca C, Semina Elena V

Abstract excerpt

PURPOSE: Congenital cataracts occur in 3-4 per 10,000 live births and account for 5% to 20% of pediatric blindness worldwide. With more than 37 genes known to be associated with isolated congenital cataract, whole exome sequencing (WES) was recently introduced as an efficient method for screening all known factors. METHODS: Whole exome analysis in two members of a four-generation pedigree affected with dominant...

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Source

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Identifiers

PMID: 24940039
PMCID: PMC4057250

Genes

EPHA2
CRYBA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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