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Netherton Syndrome in One Chinese Adult with a Novel Mutation in the SPINK5 Gene and Immunohistochemical Studies of LEKTI

BACKGROUND: Netherton syndrome (NS) is a severe autosomal recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, ichthyosis linearis circumflexa, atopic diathesis, and frequent bacterial infections. The disease is caused by mutations in the SPIN...

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Detalles Bibliográficos
Main Authors: Xi-Bao, Zhang, San-Quan, Zhang, Yu-Qing, He, Yu-Wu, Luo, Quan, Luo, Chang-Xing, Li
Formato: Artigo
Idioma:Inglês
Publicado: Medknow Publications & Media Pvt Ltd 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3401839/
https://ncbi.nlm.nih.gov/pubmed/22837558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0019-5154.97660
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