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Article

Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children?

Arthritis and rheumatism - 1 Jun 2013

Hentgen Véronique, Grateau Gilles, Stankovic-Stojanovic Katia, Amselem Serge, Jéru Isabelle

Abstract excerpt

OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disease due to mutations in MEFV. Descriptions of disease manifestations among patients carrying a single mutated MEFV allele are becoming more frequent, although no data are available on the long-term outcome. We undertook this study to assess the accuracy of clinical diagnosis in children carrying a single mutated MEFV...

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Source

Identifiers

PMID: 23508419
DOI: 10.1002/art.37935

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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