A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

• Main Authors: Andrea Sümegi (Author), Zoltán Hendrik (Author), Tamás Gáll (Author), Enikő Felszeghy (Author), Katalin Szakszon (Author), Péter Antal-Szalmás (Author), Lívia Beke (Author), Ágnes Papp (Author), Gábor Méhes (Author), József Balla (Author), György Balla (Author)
• Format: Book
• Published: BMC, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 (EIF2AK3) gene. Metho...