Genotype-phenotype correlation in Jordanian children with genetically-proven familial Mediterranean fever: The effect of R202Q mutation

Genotype-phenotype correlation in Jordanian children with genetically-proven familial Mediterranean fever: The effect of R202Q mutation

Background: Familial Mediterranean fever (FMF) is a hereditary periodic fever syndrome inherited as an autosomal recessive pattern; nonetheless, patients with symptomatic heterozygous variants exist. This study aimed to review children with genetically-proven FMF, to describe their mutation maps and...

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Bibliographic Details
Main Authors: Eyad Altamimi, Dua` N. Samara, Dima Bani Issa, Saied Jaradat, Wail Hayajneh
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:Pediatrics and Neonatology
Subjects:
colchicine
familial mediterranean fever
MEFV
R202Q
renal insufficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957222002170

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http://www.sciencedirect.com/science/article/pii/S1875957222002170

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