Loss-of-function variants in KLF4underlie autosomal dominant palmoplantar keratoderma

Autor: Malovitski, Kiril, Sarig, Ofer, Assaf, Sari, Mohamad, Janan, Malki, Liron, Bergson, Shir, Peled, Alon, Eskin-Schwartz, Marina, Gat, Andrea, Pavlovsky, Mor, Sprecher, Eli
Zdroj: Genetics in Medicine; May 2022, Vol. 24 Issue: 5 p1085-1095, 11p
Abstrakt: Palmoplantar keratodermas (PPKs) form a group of disorders characterized by thickening of palm and sole skin. Over the past 2 decades, many types of inherited PPKs have been found to result from abnormal expression, processing, or function of adhesion proteins.
Databáze: Supplemental Index