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The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene
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...
Autores principales: | Debeljak, M., Blazina, S., Brecelj, J., Avčin, T., Toplak, N. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10303888/ https://www.ncbi.nlm.nih.gov/pubmed/37388287 http://dx.doi.org/10.3389/fped.2023.1132596 |
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