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

• Главные авторы: Woojoong Kim (Автор), Eujin Park (Автор), Yo Han Ahn (Автор), Jiwon M. Lee (Автор), Hee Gyung Kang (Автор), Byung Joo Kim (Автор), Il-Soo Ha (Автор), Hae Il Cheong (Автор)
• Формат: ‌
• Опубликовано: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

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...