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    • Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome 

      Angelozzi, M.; Karvande, A.; Molin, A. N.; Ritter, A. L.; Leonard, J. M. M.; Savatt, J. M.; Douglass, K.; Myers, S. M.; Grippa, M.; Tolchin, D.; Zackai, E.; Donoghue, S.; Hurst, A. C. E.; Descartes, M.; Smith, K.; Velasco, D.; Schmanski, A.; Crunk, A.; Tokita, M. J.; de Lange, I. M.; van Gassen, K.; Robinson, H.; Guegan, K.; Suri, M.; Patel, C.; Bournez, M.; Faivre, L.; Tran-Mau-Them, F.; Baker, J.; Fabie, N.; Weaver, K.; Shillington, A.; Hopkin, R. J.; Barge-Schaapveld, Dqcm; Ruivenkamp, C. A.; Bökenkamp, R.; Vergano, S.; Seco Moro, M. N.; Díaz de Bustamante, A.; Misra, V. K.; Kennelly, K.; Rogers, C.; Friedman, J.; Wigby, K. M.; Lenberg, J.; Graziano, C.; Ahrens-Nicklas, R. C.; Lefebvre, V. (BMJ, 2022-03-01)
      BACKGROUND: A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical ...