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Article

Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study.

European journal of pediatrics - 9 Mar 2026

Menentoğlu Bengisu, Arık Selen Duygu, Prencuva Akyürek Pınar, Akgün Özlem, Aktay Ayaz Nuray

Abstract excerpt

Familial Mediterranean fever (FMF) is the most common inherited autoinflammatory disorder caused by MEFV variants. Exon 10 variants, particularly M694V, are strongly associated with severe disease, but the impact of non-exon 10 variants in children remains less defined. To evaluate genotype-phenotype correlations in pediatric FMF by comparing patients with homozygous exon 10, compound heterozygous exon 10, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41801261
DOI: 10.1007/s00431-026-06835-4
PMCID: PMC12971933

Genes

MEFV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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