A Chinese case of Nakajo–Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene

BACKGROUND: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever...

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Detalles Bibliográficos
Autores principales: Jia, Tao, Zheng, Yi, Feng, Cheng, Yang, Tielin, Geng, Songmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278201/
https://www.ncbi.nlm.nih.gov/pubmed/32513120
http://dx.doi.org/10.1186/s12881-020-01060-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278201/
https://www.ncbi.nlm.nih.gov/pubmed/32513120
http://dx.doi.org/10.1186/s12881-020-01060-8

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