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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| 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 |