BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

Miller, K. A., Cruz Walma, D. A., Pinkas, D. M., Tooze, R. S., Bufton, J. C., Richardson, W., … Bullock, A. N. (2024). BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of Medical Genetics, jmg-2023-109531. https://doi.org/10.1136/jmg-2023-109531