Abstract
Nagashima-type palmoplantar keratosis (NPPK), caused by biallelic loss-of-function variants in SERPINB7, is the most prevalent palmoplantar keratoderma (PPK) in East Asia and manifests as diffuse palmoplantar erythema and hyperkeratosis. We report four different variants of SERPINA12 in six Chinese individuals and identified the recurrent variant c.970_971del as a founder variant among East Asians.
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