Article
Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
The Journal of dermatology - 1 May 2022
Xiao Tong, Liu Yan, Wang Tian, Ren Junru, Xia Yumin, Wang Xiaopeng
Abstract excerpt
Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, autosomal recessive, and non-epidermolytic palmoplantar keratosis caused by mutations in the SERPINB7 gene, a member of the serine protease inhibitor superfamily. Genetic studies and case reports suggest that NPPK is the most common palmoplantar keratosis in East Asia but rare in Western countries. This study reports eight NPPK patients in seven pedigrees...
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