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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. Clinical and ophthalmologic examinations were performed on available affected and unaffected family members. Samples of...

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Source

Open in PubMed Open full text

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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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