Article
The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family.
The Journal of investigative dermatology - 1 Nov 2020
Steele Lloyd, Tawfik Soha S, O'Toole Edel A
Abstract excerpt
Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure. Understanding this disorder may shed further light on the role of proteases and their inhibitors in epidermal...
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