KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palm

• 作 者: HaipingKe[1]HulingJiang[2]YasuLv[2]YizhouHuang[2]RongrongLiu[2]XiaolingChen[2]ZhenfangDu[2]YuqinLuo[3]ChenmingXu[3]XianningZhang[4]
• 机 构: Department of Biology, Ningbo College of Health Sciences
• 出 处: 2015中国遗传学会大会
• 发表日期: 2015年期

　　Epidermolytic palmoplantar keratoderma (EPPK, OMIM: 144200), an autosomal dominant genodermatosis first described by Vorner in 1901, is the most common form of diffuse keratoderma with a worldwide incidence of 2.2 to 4.4 per 100 000 live newborns.It 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.