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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| Item Type: | Article |
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| 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 |
| Publisher License: | Creative Commons: Attribution 4.0 |
| PubMed ID: | 37658852 |
| Web of Science ID: | WOS:001109697100001 |
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Go to PubMed abstract |
| URI: | https://openaccess.sgul.ac.uk/id/eprint/116865 |
| Publisher's version: | https://doi.org/10.1016/j.gim.2023.100962 |
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