Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Titel:
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Auteur:
Salpietro, Vincenzo Maroofian, Reza Zaki, Maha S. Wangen, Jamie Ciolfi, Andrea Barresi, Sabina Efthymiou, Stephanie Lamaze, Angelique Aughey, Gabriel N. Al Mutairi, Fuad Rad, Aboulfazl Rocca, Clarissa Calì, Elisa Accogli, Andrea Zara, Federico Striano, Pasquale Mojarrad, Majid Tariq, Huma Giacopuzzi, Edoardo Taylor, Jenny C. Oprea, Gabriela Skrahina, Volha Rehman, Khalil Ur Abd Elmaksoud, Marwa Bassiony, Mahmoud El Said, Huda G. Abdel-Hamid, Mohamed S. Al Shalan, Maha Seo, Gohun Kim, Sohyun Lee, Hane Khang, Rin Issa, Mahmoud Y. Elbendary, Hasnaa M. Rafat, Karima Marinakis, Nikolaos M. Traeger-Synodinos, Joanne Ververi, Athina Sourmpi, Mara Eslahi, Atieh Khadivi Zand, Farhad Beiraghi Toosi, Mehran Babaei, Meisam Jackson, Adam Bertoli-Avella, Aida Pagnamenta, Alistair T. Niceta, Marcello Battini, Roberta Corsello, Antonio Leoni, Chiara Chiarelli, Francesco Dallapiccola, Bruno Faqeih, Eissa Ali Tallur, Krishnaraya K. Alfadhel, Majid Alobeid, Eman Maddirevula, Sateesh Mankad, Kshitij Banka, Siddharth Ghayoor-Karimiani, Ehsan Tartaglia, Marco Chung, Wendy K. Green, Rachel Alkuraya, Fowzan S. Jepson, James E.C. Houlden, Henry