hrp0082p2-d3-351 | Diabetes (2) | ESPE2014

Wolcott-Rallison Syndrome: New Mutations and Report of Two Cases

Eren Erdal , Cakir Esra Deniz Papatya , Bozdemir Sefika Elmas , Celebi Solmaz , Julier Cecile , Saglam Halil , Tarim Omer

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...