Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

Conclusion
This study is the first to describe dominant negative IKZF2 variants. These variants cause a novel genetic syndrome characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Source: Journal of Medical Genetics - October 24, 2023 Category: Genetics & Stem Cells Authors: Mohajeri, A., Vaseghi-Shanjani, M., Rosenfeld, J. A., Yang, G. X., Lu, H., Sharma, M., Lin, S., Salman, A., Waqas, M., Sababi Azamian, M., Worley, K. C., Del Bel, K. L., Kozak, F. K., Rahmanian, R., Biggs, C. M., Hildebrand, K. J., Lalani, S. R., Nicholas Tags: Developmental defects Source Type: research