A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome

We report a 12-year-old girl who presented with bilateral granulomatous anterior uveitis accompanied by boggy arthritis of knee and ankle joints, intermittent fever, and nodular skin rash. She was diagnosed with sporadic Blau syndrome (early-onset sarcoidosis) based on above clinical signs and prese...

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Detalles Bibliográficos
Autores principales: Jain, Lubhani, Gupta, Namrata, Reddy, Mamatha M., Mittal, Ruchi, Barik, Manas Ranjan, Panigrahi, Bharat, Monie, Tom, Basu, Soumyava
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2016
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849224/
https://www.ncbi.nlm.nih.gov/pubmed/27625029
http://dx.doi.org/10.1080/09273948.2016.1207789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849224/
https://www.ncbi.nlm.nih.gov/pubmed/27625029
http://dx.doi.org/10.1080/09273948.2016.1207789

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