Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.

The Journal of international medical research - 1 Apr 2013

Cao Wei, Yan Ming, Hao QianYun, Wang ShuLin, Wu LiHua, Liu Qing, Li MingYan, Biddle Fred G, Wu Wei

Abstract excerpt

Meesmann epithelial corneal dystrophy (MECD) is a dominantly inherited disorder, characterized by fragility of the anterior corneal epithelium and formation of intraepithelial microcysts. It has been described in a number of different ancestral groups. To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single mutation in one of two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genes, Dominant

Share to Inheritance Patterns

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 23569037
DOI: 10.1177/0300060513477306

Genes

KRT12
KRT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.PMID 23569037Read ↗

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.Semantic proximity Read ↗

Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.Semantic proximity Read ↗

Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.Semantic proximity Read ↗

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.Semantic proximity Read ↗

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

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.Semantic proximity Read ↗

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.Semantic proximity Read ↗

Meesmann Corneal Dystrophy Misdiagnosed as Refractory Dry Eye Disease: A case ReportSemantic proximity Read ↗

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.Semantic proximity Read ↗

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.Semantic proximity Read ↗

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.Semantic proximity Read ↗

Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.