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Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.

Tilmann KallinichAnne ThorwarthSae-Lim von StuckradAngela Rösen-WolffHella LukschPatrick HundsdoerferKirsten MindenPeter Krawitz
Published in: Pediatric rheumatology online journal (2016)
The observation of a new deleterious mutation adds further evidence that pathogenic mutations in FAMIN are causal for a monogenic form of JIA. Furthermore the associated phenotype is not restricted to systemic JIA, but can also be found in other forms of familial juvenile arthritis.
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