Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome

HOXD13, the homeobox-containing gene located at the most 5′ end of the HOXD cluster, plays a critical role in limb development. It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations. Polyalanine...

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Hlavní autoři: Zhao, Xiuli , Sun, Miao , Zhao, Jin , Leyva, J. Alfonso , Zhu, Hongwen , Yang, Wei , Zeng, Xuan , Ao, Yang , Liu, Qing , Liu, Guoyang , Lo, Wilson H. Y. , Jabs, Ethylin Wang , Amzel, L. Mario , Shan, Xiangnian , Zhang, Xue 
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785357/
https://ncbi.nlm.nih.gov/pubmed/17236141
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