Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
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.
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
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Journal Article
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
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 Tobias B. Haack, Ulrike, Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Jamra, Rami Abou, 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.
Published in American journal of human genetics (02.03.2023)
Published in American journal of human genetics (02.03.2023)
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Journal Article