Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott-Rallison Syndrome in a Chinese Family

• Main Authors: Na Zhao (Author), Yanling Yang (Author), Ping Li (Author), Qiuhong Xiong (Author), Han Xiao (Author), Changxin Wu (Author)
• Format: Bog
• Udgivet: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Fag: article
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Objective: Wolcott-Rallison syndrome is a rare autosomal recessive inheritance disorder caused by the defectiveness of eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3), which encodes the PKR-like endoplasmic reticulum kinase (PERK). Defect in EIF2AK3 results in a permanent diabete...