Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Am J Hum Genet
.
2023 Mar 2;110(3):548.
doi: 10.1016/j.ajhg.2023.02.010.
Authors
Maimuna S Paul
,
Anna R Duncan
,
Casie A Genetti
,
Hongling Pan
,
Adam Jackson
,
Patricia E Grant
,
Jiahai Shi
,
Michele Pinelli
,
Nicola Brunetti-Pierri
,
Alexandra Garza-Flores
,
Dave Shahani
,
Russell P Saneto
,
Giuseppe Zampino
,
Chiara Leoni
,
Emanuele Agolini
,
Antonio Novelli
,
Ulrike Blümlein Tobias B Haack
,
Wolfram Heinritz
,
Eva Matzker
,
Bader Alhaddad
,
Rami Abou Jamra
,
Tobias Bartolomaeus
,
Saber AlHamdan
,
Raphael Carapito
,
Bertrand Isidor
,
Seiamak Bahram
,
Alyssa Ritter
,
Kosuke Izumi
,
Ben Pode Shakked
,
Ortal Barel
,
Bruria Ben Zeev
,
Amber Begtrup
,
Deanna Alexis Carere
,
Sureni V Mullegama
,
Timothy Blake Palculict
,
Daniel G Calame
,
Katharina Schwan
,
Alicia R P Aycinena
,
Rasa Traberg
;
Genomics England Research Consortium
;
Sofia Douzgou
,
Harrison Pirt
,
Naila Ismayilova
,
Siddharth Banka
,
Hsiao-Tuan Chao
,
Pankaj B Agrawal
PMID:
36868207
PMCID:
PMC10027494
DOI:
10.1016/j.ajhg.2023.02.010
No abstract available
Publication types
Published Erratum