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...
| Main Authors: | , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
The Korean Pediatric Society
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177712/ |