Costello综合征1例报道并文献复习

Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (2) : 227-229.

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Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (2) : 227-229. DOI: 10.11852/zgetbjzz2019-0503

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[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.
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[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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