Atul Gupta Chaithanya Reddy Lokesh Saini Jaivinder Yadav Rakesh Kumar Jayne Houghton Sian Ellard Devi Dayal
10.5114/pedm.2021.107719
Pediatr Endocrinol Diabetes Metab
2021;27(4):287-290.
eif2ak3 gene malformations of cortical development monogenic diabetes neonatal diabetes mellitus wolcott-rallison syndrome
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/34928108/
Diabetes Mellitus, Type 1 / genetics Epiphyses / abnormalities Lissencephaly / genetics Osteochondrodysplasias / genetics eIF-2 Kinase / genetics
Diabetes Mellitus, Type 1 / genetics Epiphyses / abnormalities Lissencephaly / genetics Osteochondrodysplasias / genetics eIF-2 Kinase / genetics Case Reports Exons Homozygote Humans Infant Male Mutation Sequence Deletion EIF2AK3 protein, human eIF-2 Kinase Wolcott-Rallison syndrome
PMC10226343
34928108
Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene
2021