Article
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
Gene - 1 Aug 2014
Ke Hai-Ping, Jiang Hu-Ling, Lv Ya-Su, Huang Yi-Zhou, Liu Rong-Rong, Chen Xiao-Ling, Du Zhen-Fang, Luo Yu-Qin, Xu Chen-Ming, Fan Qi-Hui, Zhang Xian-Ning
Abstract excerpt
Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations responsible...
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