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Mutation Analysis in Chinese Patients with Cornelia de Lange Syndrome

Aims: 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...

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Bibliografische gegevens
Hoofdauteurs: Zhong, Qiulian, Liang, Desheng, Liu, Jing, Xue, Jinjie, Wu, Lingqian
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Mary Ann Liebert, Inc. 2012
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3438809/
https://ncbi.nlm.nih.gov/pubmed/22857006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2011.0383
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