O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

Somerville, C., Erkut, E., Schwartz, M., Chen, X., Manshaei, R., Ding, Q., Diderich, K., Herzig, L., Dingmann, B., Quelin, C., Pingault, V., Dubourg, C., Salgado, J. R., Sousa, S., Koboldt, D., Gosselin, R., McBride, K., Arvio, M., Järvelä, I., … Jobling, R. (2024). O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects. Genetics in Medicine Open, 2, 101469. https://doi.org/10.1016/j.gimo.2024.101469
Authors:
Cherith Somerville
Ersa Erkut
M. Schwartz
Xin Chen
Roozbeh Manshaei
Qiliang Ding
Karin E.M. Diderich
Lisa Herzig
Bri Dingmann
Chloé Quēlin
Véronique Pingault
Christèle Dubourg
Joana Rosmaninho Salgado
Sérgio B. Sousa
Daniel C. Koboldt
Rachel Gosselin
Kim L. McBride
Maria Arvio
Irma Järvelä
Isabelle Schrauwen
Laura K. Conlin
Cara Skraban
Sara Reichert
Jacqueline Leonard
Emma Bedoukian
Raymond H. Kim
Ian C. Scott
Rebekah Jobling
Affiliated Authors:
Isabelle Schrauwen
Columbia Affiliation:
Subjects:
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
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Publication Type:
Article
Unique ID:
10.1016/j.gimo.2024.101469
DOI:
10.1016/j.gimo.2024.101469
Journal:
Genetics in Medicine Open
Publication Date:
Data Source:
OpenAlex
Source Link:
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