@article{article71e485e4, title = {PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy}, author = {Paiva, Anderson Rodrigues Brandao de and Lynch, David S and Melo, Uira Souto and Lucato, Leandro Tavares and Freua, Fernando and Assis, Bruno Della Ripa de and Barcelos, Isabella and Listik, Clarice and Santos, Diego de Castro dos and Kok, Fernando}, year = {2019}, doi = {10.1212/NXG.0000000000000306}, journal = {Neurology-genetics} }