Familial Blau syndrome: First molecularly confirmed report from India

Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tube...

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Detalles Bibliográficos
Autores principales: Janarthanan, Mahesh, Poddar, Chanchal, Sudharshan, S, Seabra, Luis, Crow, Yanick J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324106/
https://www.ncbi.nlm.nih.gov/pubmed/30574935
http://dx.doi.org/10.4103/ijo.IJO_671_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324106/
https://www.ncbi.nlm.nih.gov/pubmed/30574935
http://dx.doi.org/10.4103/ijo.IJO_671_18

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