Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma

Abstract excerpt

Dear Editor, Nagashima‐type palmoplantar keratoderma (NPPK) is the most common hereditary palmoplantar keratoderma among East Asian populations and is caused by mutations in SERPINB7. Previous studies showed that the c.796C>T mutation is a founder mutation among East Asian populations and accounts for more than 70% of SERPINB7 pathological alleles.1,2 In our daily work, we found that c.522dupT, c.650_653delCTGT...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Corneal Surgery and Treatments
• Share to Skin and Cellular Biology Research
• Share to Wnt/β-catenin signaling in development and cancer