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Article

Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

Ophthalmic genetics - 1 Dec 2005

Nichini Olivia, Manzi Violaine d'Allèves, Munier Francis L, Schorderet Daniel F

Abstract excerpt

PURPOSE: Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3 or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 in KRT12. These genes were screened in several patients suffering from MECD. METHODS: Patients from 2 families were screened for mutation in KRT3 and KRT12. Exons were PCR-amplified...

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Share to Chromatography, High Pressure Liquid
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16352477
DOI: 10.1080/13816810500374391

Genes

KRT12
KRT3

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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