Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy-Reference-Cited by-同舟云学术

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Published:2023-01 Issue:1 Volume:110 Page:120-145
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Paul Maimuna S.,Duncan Anna R.,Genetti Casie A.,Pan Hongling,Jackson Adam,Grant Patricia E.,Shi Jiahai,Pinelli Michele,Brunetti-Pierri Nicola,Garza-Flores Alexandra,Shahani Dave,Saneto Russell P.,Zampino Giuseppe,Leoni Chiara,Agolini Emanuele,Novelli Antonio,Blümlein Ulrike,Haack Tobias B.,Heinritz Wolfram,Matzker Eva,Alhaddad Bader,Abou Jamra Rami,Bartolomaeus Tobias,AlHamdan Saber,Carapito Raphael,Isidor Bertrand,Bahram Seiamak,Ritter Alyssa,Izumi Kosuke,Shakked Ben Pode,Barel Ortal,Ben Zeev Bruria,Begtrup Amber,Carere Deanna Alexis,Mullegama Sureni V.,Palculict Timothy Blake,Calame Daniel G.,Schwan Katharina,Aycinena Alicia R.P.,Traberg Rasa,Douzgou Sofia,Pirt Harrison,Ismayilova Naila,Banka Siddharth,Chao Hsiao-Tuan,Agrawal Pankaj B.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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