%0 Journal Article
%T 1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析<br>Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene:an analysis of one case
%A 李媛
%A 何山
%A 朱鸿玲&lt
%A br&gt
%A LI Yuan
%A HE Shan
%A ZHU Hong-Ling
%J 中国当代儿科杂志
%D 2017
%R 10.7499/j.issn.1008-8830.2017.11.006
%K Rubinstein-Taybi综合征
%K CREBBP基因
%K 突变
%K 生长迟缓
%K 儿童
%K &lt
%K br&gt
%K Rubinstein-Taybi syndrome
%K CREBBP gene
%K Mutation
%K Growth retardation
%K Child
%U http://www.zgddek.com/CN/abstract/abstract14397.shtml