Francisca Milan Zamora
YOU?
Author Swipe
View article: Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Expanding the phenotype of <span><i>ASXL3</i></span>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <span><i>ASXL3</i></span> Open
The study aimed at widening the clinical and genetic spectrum of ASXL3 ‐related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detai…