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Article

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Molecular vision - 1 Jan 2015

Chen Judy L, Lin Benjamin R, Gee Katherine M, Gee Jessica A, Chung Duk-Won D, Frausto Ricardo F, Deng Sophie X, Aldave Anthony J

Abstract excerpt

PURPOSE: To report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD). METHODS: Slit-lamp examination was performed on the probands and available family members to identify characteristic features of MECD. After informed consent was obtained, saliva samples were obtained as a source of genomic DNA,...

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Source

Open in PubMed Open full text

Identifiers

PMID: 26788030
PMCID: PMC4704769

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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