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

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 asymptomat...

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Detalles Bibliográficos
Autores principales: Szaflik, Jacek P., Ołdak, Monika, Maksym, Radosław B., Kamińska, Anna, Pollak, Agnieszka, Udziela, Monika, Płoski, Rafał, Szaflik, Jerzy
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538492/
https://www.ncbi.nlm.nih.gov/pubmed/18806880

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538492/
https://www.ncbi.nlm.nih.gov/pubmed/18806880

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