Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7

• Main Authors: Chankiat Songsantiphap (Author), Jirat Suwanwatana (Author), Chupong Ittiwut (Author), Pravit Asawanonda (Author), Pawinee Rerknimitr (Author), Vorasuk Shotelersuk (Author)
• פורמט: ספר
• יצא לאור: Karger Publishers, 2020-11-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK. The mutation in SERPINB7 is reported to underlie the condition. Thou...