Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W Ockeloen^*, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denommé-Pichon, Orrin Devinsky, Christèle Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David GenevièveJacqueline A C Goos, Benjamin M Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A Lynch, Irene M J Mathijssen, Ruth McGowan, Kristin G Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W E Santen, Erina Sasaki, Arthur Sorlin, Peter J van der Spek, Alexander P A Stegmann, Sigrid M A Swagemakers, Irene Valenzuela, Eléonore Viora-Dupont, Antonio Vitobello, Stephanie M Ware, Mathys Wéber, Christian Gilissen, Karen J Low, Simon E Fisher, Lisenka E L M Vissers, Maggie M K Wong, Tjitske KleefstraShow 30 moreShow less