1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析
Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene:an analysis of one case

DOI: 10.7499/j.issn.1008-8830.2017.11.006

Keywords: Rubinstein-Taybi综合征,CREBBP基因,突变,生长迟缓,儿童,
Rubinstein-Taybi syndrome,CREBBP gene,Mutation,Growth retardation,Child

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