Use of Whole-Exome Sequencing for the Diagnosis of Atypical Birte-Hogge-Dubé Syndrome

查看全文 作　　者：Zhibo [1]Liu;Kai-Feng [2]Xu;Cailian [3]Hu;Rongrong [1]Chen;Jing [1]Duan;Yuzhuo [1]Shi;Yanan [1]Wang;Weihong [4]Zhang;Joel [5]Moss;Jian [6]Wu;Hongbing [1]Zhang 机构地区：[1]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;[2]Department of Respiratory Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences;[3]Department of Respiratory Medicine,Affiliated Hospital of Yanan University;[4]Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences;[5]Cardiovascular and Pulmonary Branch,National Heart,Lung,and Blood Institute,National Institutes of Health,Bethesda,MD 20892,USA;[6]MyGenostics Inc.,Baltimore,MD 21201,USA 出　　处：《Journal of Genetics and Genomics》索引2014年第41卷第8期,共3页 基　　金：supported by the National High Technology Research and Development Program of China (863 Program) (No. 2012AA02A201);supported by the Intramural Research Program,National Institutes of Health, National Heart, Lung and Blood Institute,USA 摘　　要：Destruction of the lung parenchyma may result in the formation of cysts,cavities and bullae.Definition of the type of destructive lesion is best achieved by high-resolution computed tomography(HRCT)scans of the chest(TrotmanDickenson,2014).The loss of lung parenchyma may 关 键 词：非典型 外显子 综合征 测序 诊断 断层扫描 遗传性疾病 高解析度