Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for OS remained unidentified. Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutat...

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Detalhes bibliográficos
Main Authors: Lin, Zhimiao, Chen, Quan, Lee, Mingyang, Cao, Xu, Zhang, Jie, Ma, Donglai, Chen, Long, Hu, Xiaoping, Wang, Huijun, Wang, Xiaowen, Zhang, Peng, Liu, Xuanzhu, Guan, Liping, Tang, Yiquan, Yang, Haizhen, Tu, Ping, Bu, Dingfang, Zhu, Xuejun, Wang, KeWei, Li, Ruoyu, Yang, Yong
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309189/
https://ncbi.nlm.nih.gov/pubmed/22405088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.02.006
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