基因KAT6A新发突变致发育迟缓伴特殊面容1例及文献回顾

孔锐, 戴月娥, 宋媛, 陆晓婷, 张杨, 潘秋萍

中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (4) : 461-462.

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中国儿童保健杂志 ›› 2019, Vol. 27 ›› Issue (4) : 461-462. DOI: 10.11852/zgetbjzz2018-1030
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基因KAT6A新发突变致发育迟缓伴特殊面容1例及文献回顾

  • 孔锐*, 戴月娥*, 宋媛, 陆晓婷, 张杨, 潘秋萍
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孔锐, 戴月娥, 宋媛, 陆晓婷, 张杨, 潘秋萍. 基因KAT6A新发突变致发育迟缓伴特殊面容1例及文献回顾[J]. 中国儿童保健杂志. 2019, 27(4): 461-462 https://doi.org/10.11852/zgetbjzz2018-1030
中图分类号: R722   

参考文献

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[3] Tham E, Lindstrand A, Santani A, et al.Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features[J].Am J Hum Genet, 2015,96(3):507-513.
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[6] Borrow J, Stanton JV, Andresen JM, et al.The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein[J].Nat Genet, 1996,14(1):33-41.
[7] Voss AK, Collin C, Dixon MP, et al.Moz and Retinoic acid coordinately regulate H3K9 acetylation, gene expression, and segment identity[J].Dev Cell, 2009,17(5):674.
[8] Kong Y, Grimaldi M, Curtin E, et al.Neural crest development and craniofacial morphogenesis Is coordinated by nitric oxide and histone acetylation[J].Chem Biol, 2014,21(4):488-501.
[9] Falkenberg KJ, Johnstone RW.Histone deacetylases and their inhibitors in cancer, neurological diseases and immune disorders[J].Nat Rev Drug Discov, 2014,13(9):673-691.
[10] Mahgoub M, Monteggia LM.A role for histone deacetylases in the cellular and behavioral mechanisms underlying learning and memory[J].Learn Mem, 2014,21(10):564-568.

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