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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...

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Detalles Bibliográficos
Autores principales: Debeljak, M., Blazina, S., Brecelj, J., Avčin, T., Toplak, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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