Genetics of chronic nonbacterial osteomyelitis in the irish population: no significant association with rare FBLIM1 variants.
作者信息
O'Leary Daire, Killeen Orla G, Wilson Anthony G
机构信息
National Centre for Paediatric Rheumatology, Children's Health Ireland, Dublin, Ireland.
UCD Centre for Arthritis Research, School of Medicine, University College Dublin, Dublin, Ireland.
出版信息
Pediatr Rheumatol Online J. 2021 Mar 17;19(1):32. doi: 10.1186/s12969-021-00533-1.
Abstract
摘要
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High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).意大利慢性非细菌性骨髓炎（CNO）患者队列中罕见 FBLIM1 基因突变的高发率。
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2
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.FBLIM1 基因中的遗传变异与 SAPHO 综合征和典型患者群体中的慢性复发性多灶性骨髓炎无关。
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The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry.慢性复发性多灶性骨髓炎的多方面表现：来自欧洲发热国际登记处的486例病例系列
Rheumatology (Oxford). 2018 Jul 1;57(7):1203-1211. doi: 10.1093/rheumatology/key058.
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