Article
The analysis of genotype-phenotype correlation in familial Mediterranean fever.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022
Ozturk Kubra, Cakan Mustafa
Abstract excerpt
BACKGROUND: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting with phenotypic heterogeneity. It is a clinically diagnosed disease supported by Mediterranean fever gene mutation analysis. This medical record review study aimed to make a new interpretation of clinical features in FMF patients by grouping genetic results based on the classification proposed by the...
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