Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes
Author
De Franco, Elisa
Yaghootkar, Hanieh
Date
2019-06Journal
Journal of Pediatric Endocrinology & MetabolismType
Journal ArticlePublisher
De GruyterDOI
10.1515/jpem-2018-0434Metadata
Show full item recordAbstract
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.