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A Patient Heterozygous for R92Q Mutation with Periodic Fever and Aphthous Stomatitis, Pharyngitis, and Adenitis (Pfapa) Syndrome-Like Phenotype
(Turkish J Pediatrics, 2018)
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old ...
Vasculitis: Do We Know More To Classify Better?
(Springer, 2015)
The systemic vasculitides are a heterogeneous group of disorders characterized by the inflammation of blood vessels. The development and implementation of advanced diagnostic tests and genetic studies have resulted in ...