@article{article9be4e1b0,
title   = {ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability},
author = {Machado, Ana Claudia Dantas and Carvalho, Laura Machado Lara and Vasconcelos, Felipe Tadeu Galante Rocha de and Bertola, Débora Romeo and Rosenberg, Carla and Krepischi, Ana Cristina Victorino},
year = {2025},
doi = {10.1007/s40142-025-00213-6},
publisher = {Springer Healthcare},
journal   = {Current Genetic Medicine Reports}
}