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PubMed for id: 56676397

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Page 1
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Borja N, Zafeer MF, Rodriguez JA, Morel Swols D, Thorson W, Bademci G, Tekin M. Borja N, et al. Am J Med Genet A. 2023 Apr;191(4):1044-1049. doi: 10.1002/ajmg.a.63119. Epub 2023 Jan 11. Am J Med Genet A. 2023. PMID: 36628575 Review.
KBG Syndrome.
Morel Swols D, Tekin M. Morel Swols D, et al. 2018 Mar 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Mar 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29565525 Free Books & Documents. Review.
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Willemsen MH, et al. Eur J Hum Genet. 2010 Apr;18(4):429-35. doi: 10.1038/ejhg.2009.192. Epub 2009 Nov 18. Eur J Hum Genet. 2010. PMID: 19920853 Free PMC article.
Identification of ANKRD11 as a p53 coactivator.
Neilsen PM, Cheney KM, Li CW, Chen JD, Cawrse JE, Schulz RB, Powell JA, Kumar R, Callen DF. Neilsen PM, et al. J Cell Sci. 2008 Nov 1;121(Pt 21):3541-52. doi: 10.1242/jcs.026351. Epub 2008 Oct 7. J Cell Sci. 2008. PMID: 18840648