PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy - Paiva, Anderson Rodrigues Brandao de; Lynch, David S; Melo, Uira Souto; Lucato, Leandro Tavares; Freua, Fernando; Assis, Bruno Della Ripa de; Barcelos, Isabella; Listik, Clarice; Santos, Diego de Castro dos; Kok, Fernando (Neurology-genetics, 2019)