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Article

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).

American journal of medical genetics. Part A - 1 Apr 2008

Richter Leslie, Flodman Pamela, Barria von-Bischhoffshausen Fernando, Burch Douglas, Brown Sandra, Nguyen Linda, Turner Julia, Spence M Anne, Bateman J Bronwyn

Abstract excerpt

We studied 28 individuals from a four-generation Chilean family (ADC54) including 13 affected individuals with cataracts, microcornea and/or corneal opacity. All individuals underwent a complete ophthalmologic exam. We screened with a panel of polymorphic DNA markers for known loci that cause autosomal dominant cataracts, if mutated, and refined the locus using the ABI Prism Linkage Mapping Set Version 2.5, and...

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Share to Cataract
Share to Chromosomes, Human, Pair 21

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cornea

Share to Corneal Opacity

Share to Crystallins

Share to Genes, Dominant

Share to Genetic Linkage

Share to Mutation, Missense

Source

Identifiers

PMID: 18302245
DOI: 10.1002/ajmg.a.32236

Genes

CRYAA

Variants

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.

Related research

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Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).PMID 18302245Read ↗

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Correlations of single nucleotide polymorphisms of CRYAA and CRYAB genes with the risk and clinicopathological features of children suffering from congenital cataract.Semantic proximity Read ↗

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