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Article

Novel human CRYGD rare variant in a Brazilian family with congenital cataract.

Molecular vision - 1 Jan 2011

de Figueirêdo Eugênio Santana, Giordano Gabriel Gorgone, Tavares Anderson, da Silva Márcio José, de Vasconcellos José Paulo Cabral, Arieta Carlos Eduardo Leite, de Melo Mônica Barbosa

Abstract excerpt

PURPOSE: To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. METHODS: A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the αA-crystallin (CRYAA),...

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Source

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Identifiers

PMID: 21866214
PMCID: PMC3159680

Genes

CRYGD
CRYAA
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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