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Article

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

Molecular vision - 18 Oct 2006

Vanita Vanita, Hennies Hans Christian, Singh Daljit, Nürnberg Peter, Sperling Karl, Singh Jai Rup

Abstract excerpt

PURPOSE: To identify the genetic defect in an autosomal dominant congenital cataract family, having 15 members in three generations, affected with bilateral cataract that gave the appearance of "full moon" with Y-sutural opacities. METHODS: A detailed family history and clinical data were recorded. A genome-wide scan by two point linkage analysis using nearly 400 microsatellite markers in combination with...

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Source

Identifiers

PMID: 17110920

Genes

GJA8

Provenance

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

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A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.PMID 17110920Read ↗

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