ESPE Abstracts

Background: Wolcott Rallison syndrome is a rare autosomal recessive disorder, characterized by early onset diabetes, skeletal dysplasia and growth retardation. Fewer than 100 cases have been reported in literature. We report a case of Wolcott Rallison syndrome caused by a novel mutation.Objective and hypotheses: To report a novel mutation of EIF2AK3 gene, which has never been reported previously.Method: Blood sample of a suspected ...