2例Cornelia de Lange综合征患儿NIPBL基因突变研究
NIPBL gene mutations in two children with Cornelia de Lange syndrome

DOI: 10.7499/j.issn.1008-8830.2018.05.010

Keywords: Cornelia de Lange综合征,NIPBL基因,突变分析,儿童,
Cornelia de Lange syndrome,NIPBL gene,Mutation analysis,Child

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