Ontology highlight
ABSTRACT:
SUBMITTER: Zhong Q
PROVIDER: S-EPMC3438809 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Zhong Qiulian Q Liang Desheng D Liu Jing J Xue Jinjie J Wu Lingqian L
Genetic testing and molecular biomarkers 20120802 9
<h4>Aims</h4>Cornelia de Lange syndrome (CdLS) is a dominant multisystem developmental disorder and related to mutations of the NIPBL, SMC1A, and SMC3 genes. So far, there has been no report of a mutation analysis in Chinese patients with CdLS, while 12 cases have been clinically described. In the present study, we tried to search for pathogenic mutations of the NIPBL, SMC1A, and SMC3 genes in four patients with CdLS from four unrelated Chinese families.<h4>Results</h4>The mutational analysis of ...[more]