Article
Splicing mutation in MVK is a cause of porokeratosis of Mibelli.
Archives of dermatological research - 1 Oct 2014
Zeng Kang, Zhang Qi-Guo, Li Li, Duan Yan, Liang Yan-Hua
Abstract excerpt
Porokeratosis is a chronic skin disorder characterized by the presence of patches with elevated, thick, keratotic borders, with histological cornoid lamella. Classic porokeratosis of Mibelli (PM) frequently appears in childhood with a risk of malignant transformation. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis with genetic heterogeneities, and mevalonate...
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