Associated Papers
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Kotzaeridou U et al.
Clinical Genetics, 2020
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory LC et al.
Ebiomedicine, 2019
MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2.
Young-Baird SK et al.
Nucleic Acids Research, 2019
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