Article
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).
PloS one - 1 Jan 2017
Cox Allison J, Darbro Benjamin W, Laxer Ronald M, Velez Gabriel, Bing Xinyu, Finer Alexis L, Erives Albert, Mahajan Vinit B, Bassuk Alexander G, Ferguson Polly J
Abstract excerpt
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which the genetic cause is known. However, for the majority of cases of CRMO, the genetic basis is unknown. Via whole-exome...
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