A New Mutation in Blau Syndrome

Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mut...

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Detalles Bibliográficos
Autores principales: Zeybek, Cengiz, Basbozkurt, Gokalp, Gul, Davut, Demirkaya, Erkan, Gok, Faysal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322824/
https://www.ncbi.nlm.nih.gov/pubmed/25692065
http://dx.doi.org/10.1155/2015/463959

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322824/
https://www.ncbi.nlm.nih.gov/pubmed/25692065
http://dx.doi.org/10.1155/2015/463959

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