%0 Journal Article %T MED13L综合征患者的临床表型及遗传学分析<br>Clinical phenotype and genetic analysis of MED13L syndrome %A 孟庆杰 %A 何学莲 %A 肖晗 %A 夏倩 %A 毕博 %A 向赟< %A br> %A MENG Qing-Jie %A HE Xue-Lian %A XIAO Han %A XIA Qian %A BI Bo %A XIANG Yun %J 中国当代儿科杂志 %D 2017 %R 10.7499/j.issn.1008-8830.2017.10.010 %K MED13L综合征 %K MED13L基因 %K 拷贝数变异 %K 儿童 %K < %K br> %K MED13L syndrome %K MED13L gene %K Copy number variation %K Child %U http://www.zgddek.com/CN/abstract/abstract14373.shtml