Costello综合征1例报道并文献复习

王爱萍, 杨洋, 张红红, 尹丽娟

中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (2) : 227-229.

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中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (2) : 227-229. DOI: 10.11852/zgetbjzz2019-0503
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Costello综合征1例报道并文献复习

  • 王爱萍, 杨洋, 张红红, 尹丽娟
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王爱萍, 杨洋, 张红红, 尹丽娟. Costello综合征1例报道并文献复习[J]. 中国儿童保健杂志. 2020, 28(2): 227-229 https://doi.org/10.11852/zgetbjzz2019-0503
中图分类号: R725.9   

参考文献

[1] Costello JM.A new syndrome:mental subnormality and nasal papillomata[J].Aust Paediatr J,1977,13(2):114-118.
[2] Gomez-Ospina N,Kuo C,Ananth AL,et al.Respiratory system involvement in Costello syndrome[J].AM J Med Genet A,2016,170(7):1849-1857.
[3] Sánchez-Montenegro C,Vilanova-Sánchez A,Barrena-Delfa S,et al.Costello syndrome and Umbilical ligament rhabdomyosarcoma in two pediatric patients:case reports and review of the literature[J].Case Rep Genet,2017:1587610.doi:10.1155/2017 /1587610.
[4] Chiu AT,Leung GK,Chu YW,et al.A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affection affecting codon 146-Literature review and update[J].Am J Med Genet A,2017,173(4):1109-1114.
[5] Gremer L,De Luca A,Merbitz-Zahradnik T,et al.Duplication of Glu37 in the switch 1 region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation[J].Hum Mol Genet,2010,19(5):790-802.
[6] 张寒冰,邱正庆,王薇,等.国内首例Costello综合征患儿HRAS基因突变分析[J].基础医学与临床,2010,30(12):1274-1277.

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