ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability - Machado, Ana Claudia Dantas; Carvalho, Laura Machado Lara; Vasconcelos, Felipe Tadeu Galante Rocha de; Bertola, Débora Romeo; Rosenberg, Carla; Krepischi, Ana Cristina Victorino (Current Genetic Medicine Reports, 2025)