A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings

Autor: Santos-Rebouças, Cíntia B., Boy, Raquel, Fernandes, Gabriela N.S., Gonçalves, Andressa P., Abdala, Bianca B., Gonzalez, Lucas G.C., dos Santos, Jussara M., Pimentel, Márcia M.G.
Zdroj: In European Journal of Medical Genetics April 2023 66(4)
Databáze: ScienceDirect