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53 Nakajo-Nishimura syndrome: the first African case

Nakajo-Nishimura syndrome is a hereditary autoinflammatory disorder caused by an autosomal recessive homozygous mutation of the PSMB8 gene, which encodes the immunoproteasome subunit beta 5i. The clinical manifestations of NNS are mainly pernio-like skin rashes, nodular erythema, lipodystrophy, club...

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Detalles Bibliográficos
Autores principales: Ghodbane, Nacif Eddine, Mecibah, Ali, Haddouche, Assia, Zerguine, Halima, Akakba, Zineb, Slimani, Samy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539199/
http://dx.doi.org/10.1093/rheumatology/keac496.049