Two novel pathogenic variants in MED13L: one familial and one isolated case - Carvalho, L. M. L; Costa, S. S. da; Campagnari, F; Kaufman, A; Bertola, Débora R.; Silva, I. T. da; Krepischi, Ana Cristina Victorino; Koiffmann, Celia Priszkulnik; Rosenberg, Carla (Journal of Intellectual Disability Research, 2021)