Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea
Authors:
Janina Sörmann, Marcus Schewe, Peter Proks, Thibault Jouen-Tachoire, Shanlin Rao, Elena B Riel, Katherine E Agre, Amber Begtrup, John Dean, Maria Descartes, Jan Fischer, Alice Gardham, Carrie Lahner, Paul R Mark, Srikanth Muppidi, Pavel N Pichurin, Joseph Porrmann, Jens Schallner, Kirstin Smith, Volker Straub, Pradeep Vasudevan, Rebecca Willaert, Elisabeth P Carpenter, Karin EJ Rödström, Michael G Hahn, Thomas Müller, Thomas Baukrowitz, Matthew E Hurles, Caroline F Wright, Stephen J Tucker