Associated Papers
MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.
Dang Do AN et al.
Molecular Genetics and Metabolism, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome.
Ygberg S et al.
Clinical Case Reports, 2022
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.
Moortgat S et al.
Human Mutation, 2021
Immunologic phenotype of a child with the MEHMO syndrome.
Trochanová I et al.
Physiological Research, 2020
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
Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.
Young-Baird SK et al.
Molecular Cell, 2020
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
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.
Stanik J et al.
Physiological Research, 2018
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M et al.
Human Mutation, 2017
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S et al.
American Journal of Medical Genetics. Part A, 2016
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