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Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.
Birk-Bachar M, Cohen H, Sofrin-Drucker E, Kropach-Gilad N, Orenstein N, Lidzbarsky G, Kornreich L, Tal R, Amarilyo G, Levinsky Y, Sokolov M, Raveh E, Gerlic M, Harel L. Birk-Bachar M, et al. Among authors: raveh e. Arthritis Rheumatol. 2024 Mar;76(3):444-454. doi: 10.1002/art.42721. Epub 2024 Jan 9. Arthritis Rheumatol. 2024. PMID: 37738164
117 results