A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

by Biderman Waberski, M., Brancati, F., De Luca, C., Goueli, C., Harris, D.J, Italian Undiagnosed Diseases Network, Laboy Cintron, D., McDonald, M., Mefford, H.C, Monaghan, K.G, Muir, A.M, Prada, C.E, Santiago-Sim, T., Scott, A., Stottmann, R., Wentzensen, I.M
Published 2022