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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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| Main Authors: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Mary Ann Liebert, Inc.
2012
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| Fag: | |
| Online adgang: | 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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