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Article

A novel human CRYGD mutation in a juvenile autosomal dominant cataract.

Molecular vision - 22 May 2010

Roshan Mascarenhas, Vijaya Pai H, Lavanya G Rao, Shama Prasada K, Santhiya S T, Graw Jochen, Gopinath P M, Satyamoorthy K

Abstract excerpt

PURPOSE: Identification of causal mutation in the crystallin, connexin, and paired box gene 6 (PAX6) genes associated with childhood cataract in patients from India. METHODS: In this study, forty eight members from seventeen families and 148 sporadic cases of childhood cataract were evaluated. Cl...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20508808
PMCID: PMC2875257

Genes

CRYGD
PAX6
CRYAA
CRYBB2
CRYGA
GJA3
GJA8
CRYGB
CRYGC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20508808-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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