Novel LPIN2 mutations in Majeed syndrome induce NF-κB pathway activation
摘要
To the Editor,Mutations in LPIN2,located on the short arm of chromosome 18,can lead to Majeed syndrome,a rare autosomal recessive disorder characterized by fever,chronic relapsing multifocal osteomyelitis,congenital erythropoietic dysplasia,and markedly elevated markers of blood inflammation.
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