ArticleFrontiers in pediatrics2023
The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Limitations of EBV transformed human Raji B cells as a model for measuring canonical NF-κB activation.bioRxiv : the preprint server for biology · 2026Article
- Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.RMD open · 2026Article
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Authors and funding
5 authors.
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Abstract
Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early-onset Behcet's disease. After the publication of the first 16 cases, more patients were diagnosed and described in the literature. The spectrum of clinical presentation has expanded. In this short report, we present a patient with a novel mutation in the
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