%0 Journal Article %T 2例Cornelia de Lange综合征患儿NIPBL基因突变研究<br>NIPBL gene mutations in two children with Cornelia de Lange syndrome %A 赵云静 %A 麻宏伟< %A br> %A ZHAO Yun-Jing %A MA Hong-Wei %J 中国当代儿科杂志 %D 2018 %R 10.7499/j.issn.1008-8830.2018.05.010 %K Cornelia de Lange综合征 %K NIPBL基因 %K 突变分析 %K 儿童 %K < %K br> %K Cornelia de Lange syndrome %K NIPBL gene %K Mutation analysis %K Child %U http://www.zgddek.com/CN/abstract/abstract14512.shtml