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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...
Autores principales: | Xi-Bao, Zhang, San-Quan, Zhang, Yu-Qing, He, Yu-Wu, Luo, Quan, Luo, Chang-Xing, Li |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401839/ https://www.ncbi.nlm.nih.gov/pubmed/22837558 http://dx.doi.org/10.4103/0019-5154.97660 |
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