Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia

Conclusion
Our results suggest a critical role for SENP7 in nervous system development, haematopoiesis and immune function in humans.

Source: Journal of Medical Genetics - October 24, 2023 Category: Genetics & Stem Cells Authors: Samra, N., Jansen, N. S., Morani, I., Kakun, R. R., Zaid, R., Paperna, T., Garcia-Dominguez, M., Viner, Y., Frankenthal, H., Shinwell, E. S., Portnov, I., Bakry, D., Shalata, A., Shapira Rootman, M., Kidron, D., Claessens, L. A., Wevers, R. A., Mandel, H. Tags: Novel disease loci Source Type: research