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, Parker MJ, McGowan SJ, Twigg SRF, Chalk R, Staunton D, Johnson D, Wilkie AOM, Bullock AN.
Miller KA, et al. Among authors: cruz walma da.
J Med Genet. 2024 Apr 19;61(5):490-501. doi: 10.1136/jmg-2023-109531.
J Med Genet. 2024.
PMID: 38296633
Free PMC article.