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

Conclusion
These findings consolidate evidence of a fairly non-specific neurodevelopmental syndrome due to SOX4 haploinsufficiency in neurogenesis and multiple other developmental processes.

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: 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., To Tags: Neurogenetics Source Type: research