Article
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2021
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
Abstract excerpt
PURPOSE: To identify novel genes associated with intellectual disability (ID) in four unrelated families. METHODS: Here, through exome sequencing and international collaboration, we report eight individuals from four unrelated families of diverse geographic origin with biallelic loss-of-function variants in UBE4A. RESULTS: Eight evaluated individuals presented with syndromic intellectual disability and global...
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