Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Resource Type
Article
Authors
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