Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Autor: 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.
Zdroj: In Genetics in Medicine April 2021 23(4):661-668
Databáze: ScienceDirect
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