Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable...

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Detalhes bibliográficos
Main Authors: Li, Ming, Cheng, Ruhong, Liang, Jianying, Yan, Heng, Zhang, Hui, Yang, Lijia, Li, Chengrang, Jiao, Qingqing, Lu, Zhiyong, He, Jianhui, Ji, Jin, Shen, Zhu, Li, Chunqi, Hao, Fei, Yu, Hong, Yao, Zhirong
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675235/
https://ncbi.nlm.nih.gov/pubmed/23684010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.022
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