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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
Autores principales: Xi-Bao, Zhang, San-Quan, Zhang, Yu-Qing, He, Yu-Wu, Luo, Quan, Luo, Chang-Xing, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
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