Mahesh Janarthanan Chanchal Poddar S Sudharshan Luis Seabra Yanick J Crow
10.4103/ijo.IJO_671_18
Indian J Ophthalmol
2019 Jan;67(1):165-167.
blau syndrome nod2 juvenile idiopathic arthritis-associated uveitis ocular sarcoidosis ocular tuberculosis
CC BY-NC-SA
https://pubmed.ncbi.nlm.nih.gov/30574935/
Arthritis / diagnosis DNA / genetics Molecular Diagnostic Techniques / methods Mutation Nod2 Signaling Adaptor Protein / genetics Synovitis / diagnosis Uveitis / diagnosis
Arthritis / diagnosis DNA / genetics Molecular Diagnostic Techniques / methods Mutation Nod2 Signaling Adaptor Protein / genetics Synovitis / diagnosis Uveitis / diagnosis Case Reports Adult Arthritis / genetics Arthritis / metabolism DNA Mutational Analysis Female Humans India Nod2 Signaling Adaptor Protein / metabolism Sarcoidosis Slit Lamp Microscopy Synovitis / genetics Synovitis / metabolism Uveitis / genetics Uveitis / metabolism NOD2 protein, human Nod2 Signaling Adaptor Protein DNA Blau syndrome
PMC6324106
30574935
Familial Blau syndrome:First molecularly confirmed report from India
2019