The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

BACKGROUND: An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to defective epidermal-water-barrier function in the e...

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Vydáno v:BMC Dermatol
Hlavní autoři: Krøigård, Anne Bruun, Hetland, Liv Eline, Clemmensen, Ole, Blaydon, Diana C., Hertz, Jens Michael, Bygum, Anette
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4891830/
https://ncbi.nlm.nih.gov/pubmed/27255181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12895-016-0044-3
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