Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)

Boer, E. de; Ockeloen, C.W.; Kampen, R.A.; Hampstead, J.E.; Dingemans, A.J.M.; Rots, D.; ... ; Kleefstra, T. (2023)

Article / Letter to editor

• All authors: Boer, E. de; Ockeloen, C.W.; Kampen, R.A.; Hampstead, J.E.; Dingemans, A.J.M.; Rots, D.; Lütje, L.; Ashraf, T.; Baker, R.; Barat-Houari, M.; Angle, B.; Chatron, N.; Denommé-Pichon, A.S.; Devinsky, O.; Dubourg, C.; Elmslie, F.; Elloumi, H.Z.; Faivre, L.; Fitzgerald-Butt, S.; Geneviéve, D.; Goos, J.A.C.; Helm, B.M.; Kini, U.; Lasa-Aranzasti, A.; Lesca, G.; Lynch, S.A.; Mathijssen, I.M.J.; McGowan, R.; Monaghan, K.G.; Odent, S.; Pfundt, R.; Putoux, A.; Reeuwijk, J. van; Santen, G.W.E.; Sasaki, E.; Sorlin, A.; Spek, P.J. van der; Stegmann, A.P.A.; Swagemakers, S.M.A.; Valenzuela, I.; Viora-Dupont, E.; Vitobello, A.; Ware, S.M.; Wéber, M.; Gilissen, C.; Low, K.J.; Fisher, S.E.; Vissers, L.E.L.M.; Wong, M.M.K.; Kleefstra, T.
• Date: 2023-11-03
• Journal: Genetics in Medicine
• Volume: 25
• Issue: 11
• DOI: doi:10.1016/j.gim.2023.100962
• Link: https://www.sciencedirect.com/science/article/pii/S1098360023009784?via%...