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Article

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

BMC research notes - 11 Feb 2016

Javadiyan Shari, Craig Jamie E, Souzeau Emmanuelle, Sharma Shiwani, Lower Karen M, Pater John, Casey Theresa, Hodson Trevor, Burdon Kathryn P

Abstract excerpt

BACKGROUND: Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric cataract displaying variable phenotypes. CASE PRESENTATION: Fifty-one genes implicated in congenital cataract in human or mouse were sequenced in an affected individual from an Australian...

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Source

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Identifiers

PMID: 26867756
DOI: 10.1186/s13104-016-1890-0
PMCID: PMC4750205

Genes

CRYAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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