Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review-Reference-Cited by-同舟云学术

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Published:2020-09-04 Issue:5 Volume:98 Page:507-514
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Kotzaeridou Urania¹,Young‐Baird Sara K.²³,Suckow Vanessa⁴,Thornburg Alexis G.²,Wagner Matias⁵⁶⁷^ORCID,Harting Inga⁸,Christ Stine¹,Strom Tim⁵,Dever Thomas E.²,Kalscheuer Vera M.⁴^ORCID

Affiliation:

1. Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany

2. Eunice Kennedy Shriver National Institute of Child Health and Human Development NIH Bethesda Maryland USA

3. National Institute of General Medical Sciences NIH Bethesda Maryland USA

4. Research Group Development and Disease Max Planck Institute for Molecular Genetics Berlin Germany

5. Institute of Human Genetics, Technical University München Munich Germany

6. Institute of Human Genetics, Helmholtz Zentrum München Neuherberg Germany

7. Institute for Neurogenomics, Helmholtz Zentrum München Neuherberg Germany

8. Department of Neuroradiology University Hospital Heidelberg Heidelberg Germany

Funder

National Institute of General Medical Sciences

Publisher

Wiley

Subject