Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review.

IF 2.3 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology Pub Date : 2025-07-29 DOI:10.1186/s12969-025-01129-9

Alhanouf AlSaleem, Abdulrahman Assiri, Rayyan Alfadda, Suliman Al-Jumaah, Sulaiman M Al-Mayouf

引用次数: 0

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用OTULIN基因的新纯合变异扩大ORAS的表型和遗传谱：一个病例系列和文献综述。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Rheumatology PEDIATRICS-RHEUMATOLOGY

CiteScore

4.10

自引率

8.00%

发文量

审稿时长

>12 weeks

期刊介绍： Pediatric Rheumatology is an open access, peer-reviewed, online journal encompassing all aspects of clinical and basic research related to pediatric rheumatology and allied subjects. The journal’s scope of diseases and syndromes include musculoskeletal pain syndromes, rheumatic fever and post-streptococcal syndromes, juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, local and systemic scleroderma, Kawasaki disease, Henoch-Schonlein purpura and other vasculitides, sarcoidosis, inherited musculoskeletal syndromes, autoinflammatory syndromes, and others.