BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
BULLOCK A., WILKIE A., Miller K., Cruz Walma D., PINKAS D., Tooze R., Bufton J., Richardson W., Manning C., Hunt A., Cros J., MCGOWAN S., TWIGG S., CHALK R., STAUNTON D., Johnson D.