Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping and haplotype construction, we located the li...

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Main Authors: Li, Hui, Wang, Cheng-Ye, Wang, Jia-Xin, Wu, Gui-Sheng, Yu, Ping, Yan, Xiao-Yi, Chen, Yong-Gang, Zhao, Lu-Hang, Zhang, Ya-Ping
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2009
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986254/
https://ncbi.nlm.nih.gov/pubmed/19066618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.240
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