학술논문
Biallelic UBE4Aloss-of-function variants cause intellectual disability and global developmental delay
Document Type
Article
Author
Melo, Uirá Souto; Bonner, Devon; Kent Lloyd, Kevin C.; Moshiri, Ala; Willis, Brandon; Lanoue, Louise; Bower, Lynette; Leonard, Brian C.; Martins, Davi Jardim; Gomes, Fernando; de Souza Leite, Felipe; Oliveira, Danyllo; Kitajima, João Paulo; Monteiro, Fabiola P.; Zatz, Mayana; Menck, Carlos Frederico Martins; Wheeler, Matthew T.; Bernstein, Jonathan A.; Dumas, Kevin; Spiteri, Elizabeth; Di Donato, Nataliya; Jahn, Arne; Hashem, Mais; Alsaif, Hessa S.; Chedrawi, Aziza; Alkuraya, Fowzan S.; Kok, Fernando; Byers, Heather M.
Source
Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p661-668, 8p
Subject
Language
ISSN
10983600; 15300366
Abstract
To identify novel genes associated with intellectual disability (ID) in four unrelated families.