Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 aut...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Chromosomes, Human, Pair 21

Methodology Data sources Editorial policy Privacy 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 2 Sept 2026. Prepared record publication-18302245-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.Semantic proximity Read ↗

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.Semantic proximity Read ↗

A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract.Semantic proximity Read ↗

CRYBB1 mutation associated with congenital cataract and microcornea.Semantic proximity Read ↗

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

Polymorphisms in CRYAA Promoter with Susceptibility to Cataract: A Meta-Analysis.Semantic proximity Read ↗

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.Semantic proximity Read ↗

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.Semantic proximity Read ↗

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.Semantic proximity Read ↗

The genetic landscape of crystallins in congenital cataractSemantic proximity Read ↗

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 ↗

Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.