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CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature |
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| Authors: | Weiguo Sui Xianliang Hou Wenti Che Minglin Ou Guoping Sun Shengxing Huang Fuhua Liu Peng Chen Xiaolian Wei Yong Dai |
| Affiliation: | 1. Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, China;2. College of Life Science, Guangxi Normal University, Guilin, Guangxi, China;3. Lab. Center, Shenzhen Pingshan People's Hospital, Shenzhen, Guangdong, China;4. Clinical Medical Research Center, the Second Clinical Medical College of Jinan University (Shenzhen People's Hospital), Shenzhen, Guangdong, China |
| Abstract: | |
| Keywords: | exome sequencing mutation primary ciliary dyskinesia respiratory bronchiolitis situs inversus |