Autor: |
Faqeih, Eissa A., Alghamdi, Malak Ali, Almahroos, Marwa A., Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M., Clément, Prouteau, Calame, Daniel G., Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R., Pastore, Annalisa, Peake, Roy W.A., Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A.M. |
Zdroj: |
Genetics in Medicine; February 2023, Vol. 25 Issue: 2 |
Abstrakt: |
Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes encoding E3 ligases are yet to be identified. |
Databáze: |
Supplemental Index |
Externí odkaz: |
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