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Article

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

PloS one - 1 Jan 2017

Kuo Debbie S, Sokol Jared T, Minogue Peter J, Berthoud Viviana M, Slavotinek Anne M, Beyer Eric C, Gould Douglas B

Abstract excerpt

PURPOSE: Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals with congenital cataracts and aphakic glaucoma, one of whom also had microphthalmia. The purpose of this study was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28827829
DOI: 10.1371/journal.pone.0183438
PMCID: PMC5565107

Genes

GJA8

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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