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

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

Molecular vision - 15 Sept 2008

Szaflik Jacek P, Ołdak Monika, Maksym Radosław B, Kamińska Anna, Pollak Agnieszka, Udziela Monika, Płoski Rafał, Szaflik Jerzy

Abstract excerpt

PURPOSE: Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity. MCD...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Epithelium, Corneal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Heterozygote

Share to Microscopy, Confocal

Share to Poland

Share to White People

Source

Open in PubMed Open full text

Identifiers

PMID: 18806880
PMCID: PMC2538492

Genes

KRT3
KRT12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.PMID 18806880Read ↗

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 ↗

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

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

Mutations in cornea-specific keratin K3 or K12 genes cause 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 ↗

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

A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.Semantic proximity Read ↗

A new clinical perspective of corneal dystrophies through molecular genetics.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 ↗

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

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