Article
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis.
Ocular immunology and inflammation - 1 Jan 2018
Ebrahimiadib Nazanin, Samra Khawla Abu, Domina Aaron M, Stiles Ethan R, Ewer Roger, Bocian Charlie P, Foster C Stephen
Abstract excerpt
PURPOSE: To describe the clinical and molecular implications of a novel mutation in the NOD2/CARD15 gene on a family and its seven affected members. METHODS: We reviewed the clinical presentations of family members who came to our center for refractory uveitis. Genetic testing and molecular testing was performed. RESULTS: All affected members had adult onset recurrent non-granulomatous panuveitis. The inheritance...
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