A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

The American Journal of Human Genetics 2026 Open access

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Authors: Esra J. N. Erkut, Cherith Somerville, Marci L.B. Schwartz, Laura A. McDonald, Qiliang Ding, Olivia M. Moran, Xin Chen, Roozbeh Manshaei, Anne-Sophie Riedijk, Marie-Therese Schnürer, Daniel C. Koboldt, Stylianos E. Antonarakis
+40 more Emma C. Bedoukian, Xavier Blanc, Laura Kathleen Conlin, Helen Cox, Karin E. M. Diderich, Bri Dingmann, Christèle Dubourg, Frances Elmslie, Luis Escobar, Rachel Gosselin, María J. Guillen Sacoto, Cynthia D. Haag, Lisa Herzig, Ramanand Jeeneea, Priti Kenia, Konstantinos Kolokotronis, Anna M. Kopps, Christin Kupper, Hayley Lees, Jacqueline Leonard, Jonathan Lévy, Rebecca Okashah Littlejohn, Demian Mayer, Kim L. McBride, Scott McLean, Nikhil Pattani, Laurence Perrin, Véronique Pingault, Chloé Quēlin, Emmanuelle Ranza, Anita M. Rauch, Sara L. Reichert, Joana Rosmaninho‐Salgado, Cara M. Skraban, Sérgio Bernardo de Sousa, Melissa C. Stuebben, Paolo Zanoni, Raymond H. Kim, Ian C. Scott, Rebekah Jobling
DOI: 10.1016/j.ajhg.2026.02.005
Cited by: 0

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Congenital heart defects research

Publication details

Journal / source
The American Journal of Human Genetics
Volume
113
Issue
3
Pages
636–636
Publication date
11 February 2026
Language
EN