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Article

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

Molecular vision - 1 Sept 2006

Hansen Lars, Yao Wenliang, Eiberg Hans, Funding Mikkel, Riise Ruth, Kjaer Klaus Wilbrandt, Hejtmancik James Fielding, Rosenberg Thomas

Abstract excerpt

PURPOSE: "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated...

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

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Source

Identifiers

PMID: 16971895

Genes

GJA3
STS

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.

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

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