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Article

Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.

Investigative ophthalmology & visual science - 1 Aug 2010

Aldave Anthony J, Rosenwasser George O D, Yellore Vivek S, Papp Jeanette C, Sobel Eric M, Pham Michele N, Chen Michael C, Dandekar Sugandha, Sripracha Ram, Rayner Sylvia A, Sassani Joseph W, Gorin Michael B

Abstract excerpt

PURPOSE: To identify the genetic basis of posterior amorphous corneal dystrophy (PACD) segregating in a large pedigree. METHODS: The authors performed clinical evaluation of a previously unreported pedigree with PACD, light and electron microscopic examination of an excised corneal button, genomewide linkage analysis, fine mapping linkage and haplotype analysis, and screening of four candidate genes (KERA, LUM,...

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Share to Chondroitin Sulfate Proteoglycans
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20357198
DOI: 10.1167/iovs.09-4067
PMCID: PMC2910638

Genes

DCN
EPYC
KERA
LUM

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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