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Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Kotzaeridou, Urania; Young-Baird, Sara K; Suckow, Vanessa; Thornburg, Alexis G; Wagner, Matias; Harting, Inga; Christ, Stine; Strom, Tim; Dever, Thomas E; Kalscheuer, Vera M.
Affiliation
  • Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Young-Baird SK; Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.
  • Suckow V; National Institute of General Medical Sciences, NIH, Bethesda, Maryland, USA.
  • Thornburg AG; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Wagner M; Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.
  • Harting I; Institute of Human Genetics, Technical University München, Munich, Germany.
  • Christ S; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Strom T; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Dever TE; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.
  • Kalscheuer VM; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Clin Genet ; 98(5): 507-514, 2020 11.
Article in En | MEDLINE | ID: mdl-32799315
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Biosynthesis / Eukaryotic Initiation Factor-2 / Mental Retardation, X-Linked / Epilepsy / Genitalia / Hypogonadism / Microcephaly / Obesity Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Biosynthesis / Eukaryotic Initiation Factor-2 / Mental Retardation, X-Linked / Epilepsy / Genitalia / Hypogonadism / Microcephaly / Obesity Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Type: Article Affiliation country: Germany