Wolcott‐Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature

Abstract excerpt

BACKGROUND: Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by early infancy onset diabetes mellitus and multiple epiphyseal dysplasia. So far, 17 children have been described in the world literature. Recently, mutations in the gene encoding EIF2AK3 have been shown to segregate with the syndrome in three affected families. AIMS: We aimed to describe the clinical characterization...

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