Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma

ejd.2010.1244 Auteur(s) : Yue-Ping ZENG, Wan-Xin CHAI, Kai FANG, Bao-Xi WANG, Ya-Gang ZUO zuoyagang@263.net Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Dongcheng District, Beijing 100730, China Epidermolytic diffuse palmoplantar keratodermas (EPPK: OMIM 144200) is an autosomally inherited genodermatosis characterized clinically by diffuse, symmetric, yellow skin thickening confined to the palms and soles [...]