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Article

Differentiating PFAPA syndrome from monogenic periodic fevers.

Pediatrics - 1 Oct 2009

Gattorno Marco, Caorsi Roberta, Meini Antonella, Cattalini Marco, Federici Silvia, Zulian Francesco, Cortis Elisabetta, Calcagno Giuseppina, Tommasini Alberto, Consolini Rita, Simonini Gabriele, Pelagatti Maria Antonietta, Baldi Maurizia, Ceccherini Isabella, Plebani Alessandro, Frenkel Joost, Sormani Maria Pia, Martini Alberto

Abstract excerpt

OBJECTIVES: To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria and to test the accuracy of the Gaslini diagnostic score for identifying patients with PFAPA syndrome with higher probabilities of carrying relevant mutations in genes associated with periodic...

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Source

Identifiers

PMID: 19786432
DOI: 10.1542/peds.2009-0088

Genes

MEFV
MVK

Provenance

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