Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.

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第一作者： Jia,Liu

第一单位： Deparment of Pediatric Nephrology, Rheumatology and Immunity, The Affiliated Hospital of Qingdao University, Qingdao, China.

作者： Jia,Liu ^[1] ; Ranran,Zhang ^[1] ; Zhi,Yi ^[2] ; Yi,Lin ^[1] ; Hong,Chang ^[1] ; Qiuye,Zhang ^[3]

作者单位： Deparment of Pediatric Nephrology, Rheumatology and Immunity, The Affiliated Hospital of Qingdao University, Qingdao, China. ^[1] Deparment of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, China. ^[2] Deparment of Pediatric Nephrology, Rheumatology and Immunity, The Affiliated Hospital of Qingdao University, Qingdao, China. qyzh9816@qdu.edu.cn. ^[3]

关键词 Cryopyrin-associated periodic syndrome (CAPS)Muckle-Wells syndrome (MWS)NLRP3 gene Variation

主题词儿童, 学龄前(Child, Preschool);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);冷吡啉相关周期性综合征(Cryopyrin-Associated Periodic Syndromes);突变(Mutation);少见病(Rare Diseases)

DOI 10.1186/s12969-023-00795-x

PMID 36765385

发布时间 2023-02-25

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