Article
The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.
Postgraduate medicine - 1 Jan 2025
Polat Merve Cansu, Çelikel Elif, Ekici Tekin Zahide, Güngörer Vildan, Karagöl Cüneyt, Kaplan Melike Mehveş, Öner Nimet, Tekgoz Nilüfer, Öztürk Didem, Özçelik Emine, Işıklar Ekici Mehveş, Uğur Es Yasemin, Sezer Serdar, Çelikel Acar Banu
Abstract excerpt
OBJECTIVE: To compare the demographic and clinical characteristics of familial Mediterranean fever (FMF) patients according to age at disease onset and evaluate the dose effect of the number of pathogenic or likely pathogenic exon 10 mutations of the MEFV gene on disease severity. METHODS: This medical record review study was performed on 485 pediatric FMF patients with uni- or biallelic exon 10 mutations of the...
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