Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy

Meesmann epithelial corneal dystrophy (MECD) is a rare dominantly inherited disorder that is characterized by corneal epithelial microcysts and is associated with mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes. In this study, we report a novel mutation in the KRT12 gene in a Vietname...

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Vydáno v:Case Rep Ophthalmol
Hlavní autoři: Dong, Pham Ngoc, Cung, Le Xuan, Sam, Tran Khanh, Hang, Do Thi Thuy, Chung, Doug D., Alkadi, Turad A., Buckshey, Arjun, Zhang, Junwei, Kassels, Alexa, Aldave, Anthony J.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7154238/
https://ncbi.nlm.nih.gov/pubmed/32308613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000506435
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