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Article

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).

Molecular vision - 1 Jan 2011

VanderVeen Deborah K, Andrews Caroline, Nihalani Bharti R, Engle Elizabeth C

Abstract excerpt

PURPOSE: To describe phenotypic characteristics of two pedigrees manifesting early onset crystalline cataract with mutations in the γD-crystallin gene (CRYGD). METHODS: A detailed medical history was obtained from two Caucasian pedigrees manifesting autosomal dominant congenital cataracts. Genomic DNA was extracted from saliva (DNA Genotek). Single Nucleotide Polymorphism (SNP) based genome analysis of the larger...

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Share to Chromosomes, Human, Pair 2
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Lens, Crystalline

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Source

Open in PubMed Open full text

Identifiers

PMID: 22219628
PMCID: PMC3247172

Genes

CRYGD
CRYGA
CRYGB
CRYGC

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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