Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

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 th...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354242/
https://www.ncbi.nlm.nih.gov/pubmed/28301468
http://dx.doi.org/10.1371/journal.pone.0169687

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