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Liu, D. KMT2D Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4327 (accessed on 27 September 2026).
Liu D. KMT2D Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4327. Accessed September 27, 2026.
Liu, Dean. "KMT2D Gene" Encyclopedia, https://encyclopedia.pub/entry/4327 (accessed September 27, 2026).
Liu, D. (2020, December 23). KMT2D Gene. In Encyclopedia. https://encyclopedia.pub/entry/4327
Liu, Dean. "KMT2D Gene." Encyclopedia. Web. 23 December, 2020.
KMT2D Gene
Edit

Lysine methyltransferase 2D

genes

References

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  2. Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S,Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Kabuki syndrome: clinical and molecular diagnosis in thefirst year of life. Arch Dis Child. 2015 Feb;100(2):158-64. doi:10.1136/archdischild-2013-305858.
  3. Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z. Kabuki syndrome: aChinese case series and systematic review of the spectrum of mutations. BMC MedGenet. 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4. Review.
  4. Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P,Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, MonicaMD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG,Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, DiBattista E, Vancini A, Garavelli L, Zelante L, Merla G. Molecular analysis,pathogenic mechanisms, and readthrough therapy on a large cohort of Kabukisyndrome patients. Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547.
  5. Natarajan TG, Kallakury BV, Sheehan CE, Bartlett MB, Ganesan N, Preet A, Ross JS, FitzGerald KT. Epigenetic regulator MLL2 shows altered expression in cancercell lines and tumors from human breast and colon. Cancer Cell Int. 2010 Apr30;10:13. doi: 10.1186/1475-2867-10-13.
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  7. Parsons DW, Li M, Zhang X, Jones S, Leary RJ, Lin JC, Boca SM, Carter H,Samayoa J, Bettegowda C, Gallia GL, Jallo GI, Binder ZA, Nikolsky Y, Hartigan J, Smith DR, Gerhard DS, Fults DW, VandenBerg S, Berger MS, Marie SK, Shinjo SM,Clara C, Phillips PC, Minturn JE, Biegel JA, Judkins AR, Resnick AC, Storm PB,Curran T, He Y, Rasheed BA, Friedman HS, Keir ST, McLendon R, Northcott PA,Taylor MD, Burger PC, Riggins GJ, Karchin R, Parmigiani G, Bigner DD, Yan H,Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE. The genetic landscape ofthe childhood cancer medulloblastoma. Science. 2011 Jan 28;331(6016):435-9. doi: 10.1126/science.1198056.
  8. Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y,Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, vanHaeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, DevriendtK, Schrander-Stumpel CT. MLL2 mutation spectrum in 45 patients with Kabukisyndrome. Hum Mutat. 2011 Feb;32(2):E2018-25. doi: 10.1002/humu.21416.
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