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Use of Whole-Exome Sequencing for the Diagnosis of Atypical Birte-Hogge-Dubé Syndrome
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作者 Zhibo Liu Kai-Feng Xu +8 位作者 Cailian Hu Rongrong Chen Jing Duan yuzhuo shi Yanan Wang Weihong Zhang Joel Moss Jian Wu Hongbing Zhang 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2014年第8期449-451,共3页
Destruction of the lung parenchyma may result in the forma- tion of cysts, cavities and bullae. Definition of the type of destructive lesion is best achieved by high-resolution computed tomography (HRCT) scans of th... Destruction of the lung parenchyma may result in the forma- tion 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 (Trotman- Dickenson, 2014). The loss of lung parenchyma may result in respiratory compromise and pneumothoraces. In the case of cystic lung destruction, multiple causes have been identified, with the cysts being a manifestation of inherited and non- inherited diseases (Sahn and Heffner, 2000). Compared with sporadic cases, familial lung cysts/spontaneous pneumothorax are rare and are manifestation of some Mendelian genetic diseases. 展开更多
关键词 HRCT Use of Whole-Exome Sequencing for the Diagnosis of Atypical Birte-Hogge-Dub SYNDROME
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