Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca(2+)-Activated K(+) Channel SK3 Cause Zimmermann-Laband Syndrome.
Bauer CK, Schneeberger PE, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White SM, Campeau PM, Gripp KW, et al. Am J Hum Genet. 2019 Jun 6; 104(6):1139-1157. Epub 2019 May 30.