Article
A Novel mRNA Modification Mutation in a Patient With Ligneous Conjunctivitis Coexisting With Heterozygous Familial Mediterranean Fever Mutation.
Cornea - 1 Jun 2021
Koseoglu Neslihan D, Ceylaner Serdar, Yildirim Nilgun
Abstract excerpt
PURPOSE: To describe a novel mRNA mutation associated with ligneous conjunctivitis (LC) in a patient with heterozygous familial Mediterranean fever (FMF) mutation. METHODS: Case presentation of a patient with LC and heterozygous FMF mutation. The patient was evaluated for various genetically predisposed inflammatory diseases through whole exome sequencing. RESULTS: LC is a rare inflammatory ocular pathology...
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