Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes
De Franco, Elisa
JournalJournal of Pediatric Endocrinology & Metabolism
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Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysphasia and growth retardation. It is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3). We aimed to study the clinical characteristics and frequency of the disease in the Iranian population.