Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known t...

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主要な著者: Lin, Zhimiao, Chen, Quan, Shi, Lei, Lee, Mingyang, Giehl, Kathrin A., Tang, Zhanli, Wang, Huijun, Zhang, Jie, Yin, Jinghua, Wu, Lingshen, Xiao, Ruo, Liu, Xuanzhu, Dai, Lanlan, Zhu, Xuejun, Li, Ruoyu, Betz, Regina C., Zhang, Xue, Yang, Yong
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2012
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487122/
https://ncbi.nlm.nih.gov/pubmed/23063621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.029
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