Article
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
The Journal of dermatology - 1 Jan 2017
Zhou Eray Yihui, Wang Huijun, Lin Zhimiao, Xu Guiwen, Ma Zhihong, Zhao Jiahui, Feng Cheng, Duo Lina, Yin Jinghua, Yang Yong
Abstract excerpt
Xeroderma pigmentosum (XP) is a rare genetic disorder which is divided into eight complementation groups: XP-A to XP-G and XP-V. Some XP patients demonstrate severe cutaneous and neurological manifestations, management of which requires timely diagnosis and intervention. We performed clinical evaluation and genetic analysis on 19 patients, the largest cohort of XP to date in China. Twenty-three mutations from six...
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