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

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de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; Rots, D; Lütje, L; Ashraf, T; Baker, R; Barat-Houari, M; et al. de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; 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, HZ; Faivre, L; Fitzgerald-Butt, S; Geneviève, D; Goos, JAC; Helm, BM; Kini, U; Lasa-Aranzasti, A; Lesca, G; Lynch, SA; Mathijssen, IMJ; McGowan, R; Monaghan, KG; Odent, S; Pfundt, R; Putoux, A; van Reeuwijk, J; Santen, GWE; Sasaki, E; Sorlin, A; van der Spek, PJ; Stegmann, APA; Swagemakers, SMA; Valenzuela, I; Viora-Dupont, E; Vitobello, A; Ware, SM; Wéber, M; Gilissen, C; Low, KJ; Fisher, SE; Vissers, LELM; Wong, MMK; Kleefstra, T (2023) Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genet Med, 25 (11). p. 100962. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2023.100962
SGUL Authors: Elmslie, Frances Veryan

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Official URL: https://doi.org/10.1016/j.gim.2023.100962

Item Type:

Article

Additional Information:

Correction to https://doi.org/10.1016/j.gim.2022.06.007 | https://openaccess.sgul.ac.uk/id/eprint/115087/ © 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Keywords:

0604 Genetics, 1103 Clinical Sciences, Genetics & Heredity

Journal or Publication Title:

Genet Med

ISSN:

1530-0366

Language:

eng

Dates: