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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, Merav; Cohen, Hadar; Sofrin-Drucker, Efrat; Kropach-Gilad, Nesia; Orenstein, Naama; Lidzbarsky, Gabriel; Kornreich, Liora; Tal, Rotem; Amarilyo, Gil; Levinsky, Yoel; Sokolov, Meirav; Raveh, Eyal; Gerlic, Motti; Harel, Liora.
Affiliation
  • Birk-Bachar M; Schneider Children's Medical Center of Israel, Petach-Tikva, Israel.
  • Cohen H; Tel-Aviv University, Tel-Aviv, Israel.
  • Sofrin-Drucker E; Schneider Children's Medical Center of Israel and Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Kropach-Gilad N; Schneider Children's Medical Center of Israel and Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Orenstein N; Schneider Children's Medical Center of Israel and Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Lidzbarsky G; Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach-Tikva, Israel.
  • Kornreich L; Schneider Children's Medical Center of Israel, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Tal R; Schneider Children's Medical Center of Israel, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Amarilyo G; Schneider Children's Medical Center of Israel, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Levinsky Y; Schneider Children's Medical Center of Israel, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Sokolov M; Schneider Children's Medical Center of Israel, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Raveh E; Schneider Children's Medical Center of Israel, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
  • Gerlic M; Tel-Aviv University, Tel-Aviv, Israel.
  • Harel L; Schneider Children's Medical Center of Israel, Petach-Tikva, and Tel-Aviv University, Tel-Aviv, Israel.
Arthritis Rheumatol ; 76(3): 444-454, 2024 Mar.
Article in En | MEDLINE | ID: mdl-37738164
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cryopyrin-Associated Periodic Syndromes / Hearing Loss Type of study: Screening_studies Limits: Child / Humans Language: En Journal: Arthritis Rheumatol Year: 2024 Document type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cryopyrin-Associated Periodic Syndromes / Hearing Loss Type of study: Screening_studies Limits: Child / Humans Language: En Journal: Arthritis Rheumatol Year: 2024 Document type: Article