Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay
双等位基因 UBE4A 功能丧失变异导致智力障碍和整体发育迟缓
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-020-01047-z
Uirá Souto Melo #, Devon Bonner #, Kevin C Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue, Lynette Bower, Brian C Leonard, Davi Jardim Martins, Fernando Gomes, Felipe de Souza Leite, Danyllo Oliveira, João Paulo Kitajima, Fabiola P Monteiro, Mayana Zatz, Carlos Frederico Martins Menck, Matth