Borck G et al. eIF2gamma mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell 2012, 48(4):641-646. PMID: 23063529.
Gregory LC et al. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. EBioMedicine 2019, 42:470-480. PMID: 30878599.
Ivanova N et al. mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome. Eur J Med Genet 2022, 65(2):104421. PMID: 34999262.
Kotzaeridou U et al. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2gamma translational function, and literature review. Clin Genet 2020, 98(5):507-514. PMID: 32799315.
Moortgat S et al. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. Am J Med Genet A 2016. PMID: 27333055.
Moortgat S et al. Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants. Hum Mutat 2021, 42(7):827-834. PMID: 27333055.
Skopkova M et al. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat 2017, 38(4):409-425. PMID: 28055140.
Steinmuller R et al. MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. Eur J Hum Genet 1998, 6(3):201-206. PMID: 9781023.
Young-Baird SK et al. MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. Nucleic Acids Res 2019, 47(2):855-867. PMID: 30517694.
Zhu W et al. A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders. NPJ Genom Med. 2022;7(1):72. PMID: 36535936