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.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome / 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. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - (2022). [10.1016/j.gim.2022.10.006]
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Mastrangelo, MarioWriting – Review & Editing
;Manti, FilippoWriting – Review & Editing
;
2022
Abstract
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.File | Dimensione | Formato | |
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