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Article

Posterior polar cataract: genetic analysis of a large family.

Ophthalmic genetics - 1 Sept 2005

Finzi Simone, Li Yingying, Mitchell Thomas N, Farr Arman, Maumenee Irene H, Sallum Juliana M F, Sundin Olof

Abstract excerpt

Congenital cataracts are clinically and genetically heterogeneous. Loci for autosomal dominant posterior polar cataracts have been mapped to chromosomes 1p36, 11q22-q22.3, 16q22, and 20p12-q12. We investigated a large four-generation family with 20 individuals affected with congenital posterior polar cataracts. After exclusion of known loci for posterior polar cataracts, a genome-wide screen was conducted. In...

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Share to Cataract
Share to Chromosome Mapping
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16272057
DOI: 10.1080/13816810500229124

Genes

PITX3

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.

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