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

• Autori principali: Na Zhao (Autore), Yanling Yang (Autore), Ping Li (Autore), Qiuhong Xiong (Autore), Han Xiao (Autore), Changxin Wu (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...