Article
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
Orphanet journal of rare diseases - 30 May 2017
Liu Yaping, Xu Zhiyan, Feng Ruie, Zhan Yongzhong, Wang Jun, Li Guozhen, Li Xue, Zhang Weihong, Hu Xiaowen, Tian Xinlun, Xu Kai-Feng, Zhang Xue
Abstract excerpt
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study...
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