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

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

doi:10.1016/j.gim.2023.100962

Public

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

Published in Genetics in Medicine • Sep 1, 2023

Authors:

Elke de Boer

Charlotte W. Ockeloen

Rosalie A. Kampen

Abstract

Correction to: Genetics in Medicine 2022; https://doi.org/10.1016/j.gim.2022.06.007, published online 14 July 2022. In the article “Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein” (Genet Med 2022;24:2051–2064), the follow...

Subject

Missense mutation

Haploinsufficiency

Genetics

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!