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Article

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Investigative ophthalmology & visual science - 3 May 2013

Lechner Judith, Dash Durga P, Muszynska Dorota, Hosseini Mohsen, Segev Fani, George Sonia, Frazer David G, Moore Jonathan E, Kaye Stephen B, Young Terri, Simpson David A, Churchill Amanda J, Héon Elise, Willoughby Colin E

Abstract excerpt

PURPOSE: Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs' endothelial corneal dystrophy (FECD6; MIM #613270). Although PPCD and keratoconus are clinically and pathologically distinct, PPCD has been associated with keratoconus, suggesting a common genetic basis. The purpose of our study was to perform mutational screening of the ZEB1 gene in patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23599324
DOI: 10.1167/iovs.13-11781

Genes

ZEB1

Variants

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Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.PMID 23599324Read ↗

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