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Liu, D. MBD5 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4475 (accessed on 28 September 2026).
Liu D. MBD5 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4475. Accessed September 28, 2026.
Liu, Dean. "MBD5 Gene" Encyclopedia, https://encyclopedia.pub/entry/4475 (accessed September 28, 2026).
Liu, D. (2020, December 23). MBD5 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4475
Liu, Dean. "MBD5 Gene." Encyclopedia. Web. 23 December, 2020.
MBD5 Gene
Edit

Methyl-CpG binding domain protein 5

genes

References

  1. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA,Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K,Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S,Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 inautism spectrum disorder. Eur J Hum Genet. 2014 Jan;22(1):57-63. doi:10.1038/ejhg.2013.67.
  2. Tadros S, Wang R, Waters JJ, Waterman C, Collins AL, Collinson MN, Ahn JW,Josifova D, Chetan R, Kumar A. Inherited 2q23.1 microdeletions involving the MBD5locus. Mol Genet Genomic Med. 2017 Aug 8;5(5):608-613. doi: 10.1002/mgg3.316.
  3. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA,Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C,Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD,Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI,Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as asingle causal locus of intellectual disability, epilepsy, and autism spectrumdisorder. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi:10.1016/j.ajhg.2011.09.011.
  4. Walz K, Young JI. The methyl binding domain containing protein MBD5 is atranscriptional regulator responsible for 2q23.1 deletion syndrome. Rare Dis.2014 Nov 3;2(1):e967151. doi: 10.4161/2167549X.2014.967151.
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Update Date: 23 Dec 2020
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