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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2012
Konular:
Report
Online Erişim: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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