학술논문
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Document Type
Article
Author
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.
Source
In Genetics in Medicine February 2023 25(2)
Subject
Language
ISSN
1098-3600