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Article

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.

Cornea - 1 Aug 2009

Aldave Anthony J, Yellore Vivek S, Vo Rosalind C, Kamal Khairidzan M, Rayner Sylvia A, Plaisier Christopher L, Chen Michael C, Damani Mausam R, Pham Michele N, Gorin Michael B, Sobel Eric, Papp Jeanette

Abstract excerpt

PURPOSE: Posterior polymorphous corneal dystrophy (PPCD) is an autosomal-dominant disorder of the corneal endothelium associated with visually significant corneal edema and glaucoma. Statistical genetic analysis of 4 families with PPCD has demonstrated linkage to a 2.4 cM common support interval on chromosome 20 bordered by the markers D20S182 and D20S139. We sought to identify the genetic basis of PPCD linked to...

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Share to Chromosomes, Human, Pair 20
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endothelium, Corneal

Share to Gene Amplification

Share to Genetic Linkage

Share to Glaucoma

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Source

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Identifiers

PMID: 19574904
DOI: 10.1097/ICO.0b013e31819672fb
PMCID: PMC2714875

Genes

OVOL2

Variants

rs6111803
rs1053834

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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