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GNAQ mutation R183Q as a potential cause of familial Sturge-Weber syndrome: A case report
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generationExpand
Diagnostic performance of anti-citrullinated protein/peptide antibodies in juvenile idiopathic arthritis.
The prevalence rates of anti-citrullinated protein/peptide antibodies (ACPAs) were investigated in a cohort of juvenile idiopathic arthritis (JIA) patients, and their diagnostic performances wereExpand