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Article

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.

European journal of internal medicine - 1 Sept 2023

Di Ciaula Agostino, Iacoviello Matteo, Bonfrate Leonilde, Khalil Mohamad, Shanmugam Harshitha, Lopalco Giuseppe, Bagnulo Rosanna, Garganese Antonella, Iannone Florenzo, Resta Nicoletta, Portincasa Piero, Stella Alessandro

Abstract excerpt

Familial Mediterranean Fever (FMF) is linked with the MEFV gene and is the commonest among monogenic autoinflammatory diseases, with high prevalence in the Mediterranean basin. Although the clinical presentation of FMF has a major role in diagnosis, genotype/phenotype correlations and the role of "benign" gene variants (as R202Q) appear highly variable and incompletely clear, making difficult to select the most...

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PMID: 37183082
DOI: 10.1016/j.ejim.2023.05.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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