A familial case of Blau syndrome caused by a novel NOD2 genetic mutation

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to...

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Detalles Bibliográficos
Autores principales: Kim, Woojoong, Park, Eujin, Ahn, Yo Han, Lee, Jiwon M., Kang, Hee Gyung, Kim, Byung Joo, Ha, Il-Soo, Cheong, Hae Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177712/
https://www.ncbi.nlm.nih.gov/pubmed/28018435
http://dx.doi.org/10.3345/kjp.2016.59.11.S5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177712/
https://www.ncbi.nlm.nih.gov/pubmed/28018435
http://dx.doi.org/10.3345/kjp.2016.59.11.S5

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