Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Abstract 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. Studie...

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Bibliographic Details
Main Authors: Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Birt-Hogg-Dubé syndrome
FLCN
Mutation spectrum
Online Access:http://link.springer.com/article/10.1186/s13023-017-0656-7

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http://link.springer.com/article/10.1186/s13023-017-0656-7

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