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

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

Molecular vision - 22 May 2006

Vanita Vanita, Singh Jai Rup, Hejtmancik James Fielding, Nuernberg Peter, Hennies Hans Christian, Singh Daljit, Sperling Karl

Abstract excerpt

PURPOSE: The molecular characterization of an Indian family having 10 members in four generations affected with a unique fan-shaped cataract-microcornea syndrome. METHODS: Detailed family history and clinical data were recorded. A genome-wide screening by two-point linkage analysis using more than 400 microsatellite markers in combination with multipoint lod score and haplotype analysis was carried out. Mutation...

Read the complete abstract on PubMed

Topics

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

Share to Eye Abnormalities
Share to Cataract

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

Share to Chromosomes, Human, Pair 21

Share to Cornea

Share to Crystallins

Share to Cytosine

Share to Lod Score

Share to Thymine

Source

Identifiers

PMID: 16735993

Genes

CRYAA

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.PMID 16735993Read ↗

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

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

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

[CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea].Semantic proximity Read ↗

Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.Semantic proximity Read ↗

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.Semantic proximity Read ↗

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.Semantic proximity Read ↗

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.Semantic proximity Read ↗

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

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.Semantic proximity Read ↗

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.Semantic proximity Read ↗

A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.Semantic proximity Read ↗

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