title: Use of whole-exome sequencing for the diagnosis of atypical Birt-Hogg-Dubé syndrome.
authors.affiliation: State Key Laboratory of Medical Molecular Biology, Department of Physiology, School of Basic Medicine, Graduate School of Peking Union Medical College, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China.
authors.forename: Zhibo
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Respiratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
authors.forename: Kai-Feng
authors.initials: KF
authors.lastname: Xu
authors.affiliation: Department of Respiratory Medicine, Affiliated Hospital of Yanan University, Yanan 716000, China.
authors.forename: Cailian
authors.initials: C
authors.lastname: Hu
authors.affiliation: State Key Laboratory of Medical Molecular Biology, Department of Physiology, School of Basic Medicine, Graduate School of Peking Union Medical College, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China.
authors.forename: Rongrong
authors.initials: R
authors.lastname: Chen
authors.affiliation: State Key Laboratory of Medical Molecular Biology, Department of Physiology, School of Basic Medicine, Graduate School of Peking Union Medical College, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Duan
authors.affiliation: State Key Laboratory of Medical Molecular Biology, Department of Physiology, School of Basic Medicine, Graduate School of Peking Union Medical College, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China.
authors.forename: Yuzhuo
authors.initials: Y
authors.lastname: Shi
authors.affiliation: State Key Laboratory of Medical Molecular Biology, Department of Physiology, School of Basic Medicine, Graduate School of Peking Union Medical College, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China.
authors.forename: Yanan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
authors.forename: Weihong
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Joel
authors.initials: J
authors.lastname: Moss
authors.affiliation: MyGenostics Inc., Baltimore, MD 21201, USA.
authors.forename: Jian
authors.initials: J
authors.lastname: Wu
authors.affiliation: State Key Laboratory of Medical Molecular Biology, Department of Physiology, School of Basic Medicine, Graduate School of Peking Union Medical College, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing 100005, China. Electronic address: hbzhang@ibms.pumc.edu.cn.
authors.forename: Hongbing
authors.initials: H
authors.lastname: Zhang
mesh_terms: D000328:Adult; D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003560:Cysts / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000235:genetics; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D017422:Sequence Analysis, DNA