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Article

R202Q homozygosity of Mediterranean fever gene is associated with atypical clinical phenotype of familial Mediterranean fever.

European journal of internal medicine - 1 Aug 2025

Sagris Dimitrios, Antoniadou Christina, Gatselis Nikolaos K, Gavriilidis Efstratios, Papadopoulos Vasileios, Georgiadou Sarah, Gabeta Stella, Tsironidou Victoria, Makaritsis Konstantinos P, Skendros Panagiotis, Rigopoulou Eirini I, Ritis Konstantinos, Dalekos George N

Abstract excerpt

OBJECTIVE: Apart from the classical phenotypes, familial Mediterranean fever (FMF) has several atypical manifestations making its diagnosis quite challenging. Our aim was to address the characteristics of FMF patients and the clinical importance of R202Q variant in a large cohort of patients from Greece. METHODS: Prospectively collected data from 321 FMF patients were retrospectively reviewed and analyzed. All...

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Identifiers

PMID: 40121132
DOI: 10.1016/j.ejim.2025.03.016

Genes

MEFV

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