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- Title
Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.
- Authors
Wang, Xiaopo; Zhang, Xiaofeng; Zhang, Wei; Sun, Jianfang
- Abstract
The article presents a case study of a 6-year-old Chinese boy who was taken to the hospital due to subcutaneous nodules over the joints and multiple asymptomatic papules over the trunk and limbs. He also developed multiple non-pruritic papules over the trunk and limbs. The patient was diagnosed with Blaus syndrome/early-onset sarcoidosis whichis mainly characterized by early onset and one or more recurrent manifestations of the triad of symptoms.
- Subjects
ARTHRITIS diagnosis; SARCOIDOSIS diagnosis; ARTHRITIS; GENETIC mutation; PROTEINS; SARCOIDOSIS; UVEITIS; SYNOVITIS
- Publication
Indian Journal of Dermatology, Venereology & Leprology, 2018, Vol 84, Issue 5, p645
- ISSN
0378-6323
- Publication type
case study
- DOI
10.4103/ijdvl.IJDVL_645_16