Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Eissa Faqeih, Malak Alghamdi, Marwa A. Almahroos, Essa Alharby, Makki Almuntashri, Amnah M. Alshangiti, Clément Prouteau, Daniel G. Calame, Leila Qebibo, Lydie Bürglen, Martine Doco‐Fenzy, Mario Mastrangelo, Annalaura Torella, Filippo Manti, Vincenzo Nigro, Alban Ziegler, Ghadeer Saleh Alharbi, Jamil Amjad Hashmi, R. Alraddadi, Razan Jamaan Nafaa Alamri, Tadahiro Mitani, Magalie Barth, Zeynep Coban‐Akdemir, Bilgen Bilge Geçkinli, Davut Pehli̇van, Antonio Romito, Vasiliki Karageorgou, Javier Martini, Estelle Colin, Dominique Bonneau, Aida M. Bertoli‐Avella, James R. Lupski, Annalisa Pastore, Roy W A Peake, Ashraf Dallol, Majid Alfadhel, Naif A. M. Almontashiri
Topics & Concepts
UBE3AAngelman syndromeGeneticsBiologyExome sequencingCandidate geneUbiquitin ligaseNeurodevelopmental disorderMissense mutationGenePhenotypeUbiquitinGenetic Syndromes and ImprintingGenomics and Rare DiseasesConnective tissue disorders research