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

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...

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Опубликовано в: :Front Pediatr
Главные авторы: Zhao, Na, Yang, Yanling, Li, Ping, Xiong, Qiuhong, Xiao, Han, Wu, Changxin
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2021
Предметы:
Pediatrics
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8187601/
https://ncbi.nlm.nih.gov/pubmed/34123975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.679646
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