Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Vincenzo Salpietro(National Hospital for Neurology and Neurosurgery), M. Aguennouz(University of Messina), Yamna Kriouile, Gabriel Aughey(National Hospital for Neurology and Neurosurgery), Nikolaos M. Marinakis(National and Kapodistrian University of Athens), Rin Khang(Samsung (South Korea)), Jenny C. Taylor(Centre for Human Genetics), Michael G. Hannah, Fuad Al Mutairi(King Saud bin Abdulaziz University for Health Sciences), Andrea Accogli(Istituto Giannina Gaslini), Mahmoud Bassiony(Alexandria University), Hane Lee(Orion Corporation (United Kingdom)), Adam Jackson(Sanford Health), Maha S. Zaki(National Water Research Center), Mehran Beiraghi Toosi(Mashhad University of Medical Sciences), Elisa Calì(National Hospital for Neurology and Neurosurgery), Volha Skrahina(Leibniz-Institut für Naturstoff-Forschung und Infektionsbiologie e. V. - Hans-Knöll-Institut (HKI)), Gabriela Oprea, Stéphanie Efthymiou(Queen Mary University of London), Mahmoud Y. Issa(National Research Centre), Clarissa Rocca(Institute of Human Genetics), Hasnaa M. Elbendary(National Human Genome Research Institute), Joanne Traeger‐Synodinos(National and Kapodistrian University of Athens), GoHun Seo, Huma Tariq(National Hospital for Neurology and Neurosurgery), Federico Zara(Istituto Giannina Gaslini), Sabina Barresi(Bambino Gesù Children's Hospital), Enrico Bertini(Bambino Gesù Children's Hospital), Andrea Ciolfi(Bambino Gesù Children's Hospital), Marwa Abd Elmaksoud(Alexandria University), Majid Mojarrad(Mashhad University of Medical Sciences), Karima Rafat(National Research Centre), Atieh Eslahi(Mashhad University of Medical Sciences), Farhad Khadivi Zand, Angélique Lamaze(University of Münster), Abolfazl Rad(Sabzevar University of Medical Sciences), Jamie R Wangen(Howard Hughes Medical Institute), Mohamed S. Abdel‐Hamid(National Research Centre), Reza Maroofian(University College London), Enrico Bugiardini, Khalil Ur Rehman, Pasquale Striano(Great Ormond Street Hospital), Huda G. El Said(Alexandria University), Edoardo Giacopuzzi(Human Technopole), Maha Al Shalan(Baghdad Medical City), Mara Sourmpi, Mohamed El-Khorassani(National Research Centre), Sohyun Kim, Meisam Babaei(North Khorasan University of Medical Sciences), Athina Ververi(Great Ormond Street Hospital for Children NHS Foundation Trust)
The American Journal of Human Genetics
December 20, 2023
Cited by 8


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