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Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.
Zhong Zhenyu, Ding Jiadong, Su Guannan, Liao Weiting, Gao Yu, Zhu Yunyun et al.
OphthalmologyMar 20220 citationsObservational Study
This study reclassified NOD2 variants, finding specific gain-of-function mutations cause Blau syndrome in 1.7% of uveitis patients, leading to severe ocular complications, arthritis, rash, and permanent vision loss.