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Article

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

Investigative ophthalmology & visual science - 1 Sept 2007

Hansen Lars, Yao Wenliang, Eiberg Hans, Kjaer Klaus Wilbrandt, Baggesen Kirsten, Hejtmancik J Fielding, Rosenberg Thomas

Abstract excerpt

PURPOSE: To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150). METHODS: CCMC families were recruited from a national database on hereditary eye diseases; DNA was procured from a national gene bank on hereditary eye diseases and by blood sampling from one large family. Genomewide linkage analysis, fine mapping, and direct genomic DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17724170
DOI: 10.1167/iovs.07-0013

Genes

CRYAA
CRYGD
GJA8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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