Biallelic Variants in HECT E3 Paralogs, HECTD4 and UBE3C, Encoding Ubiquitin Ligases Cause Neurodevelopmental Disorders That Overlap with Angelman Syndrome Eissa A. Faqeih , Malak Ali Alghamdi , Marwa A. Almahroos , Essa Alharby , Makki Almuntashri , Amnah M. Alshangiti , Prouteau Clement , Daniel G. Calame , Leila Qebibo , Lydie Burglen , Martine Doco-Fenzy , Mario Mastrangelo , Annalaura Torella , Filippo Manti , Vincenzo Nigro , Ziegler Alban , Ghadeer Saleh Alharbi , Jamil Amjad Hashmi , Rawya Alraddadi , Razan Alamri , Tadahiro Mitani , Barth Magalie , Zeynep Coban-Akdemir , Bilgen Bilge Geckinli , Davut Pehlivan , Antonio Romito , Vasiliki Karageorgou , Javier Martini , Estelle Colin , Dominique Bonneau , Aida Bertoli-Avella , James R. Lupski , Annalisa Pastore , Roy W. A. Peake , Ashraf Dallol , Majid Alfadhel , Naif A. M. Almontashiri Genetics in medicine（2023）
Key words
E3 ligase, HECTD4, Intellectual disability, Neurobehavioral differences, UBE3C
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