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

Podobne zapisy

• Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
  od: Arima, Kazuhiko, i wsp.
  Wydane: (2011)
• A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndrome
  od: Kinjo, N, i wsp.
  Wydane: (2015)
• Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()()
  od: Zhang, Xinyue, i wsp.
  Wydane: (2020)
• A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations in PSMB8
  od: McDermott, Amelia, i wsp.
  Wydane: (2013)
• Beneficial effect of methotrexate on a case of Nakajo-Nishimura syndrome
  od: Kunimoto, K, i wsp.
  Wydane: (2015)