BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Miller KA, Cruz Walma DA, Pinkas DM, Tooze RS, Bufton JC, Richardson W, Manning CE, Hunt AE, Cros J, Hartill V, et al. J Med Genet. 2024 Apr 19; 61(5):490-501. Epub 2024 Apr 19.