Novel mutations in <em>RSPH4A</em> and <em>TTN</em> genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome

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Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome

Short communication | 更新时间：2023-08-29

- Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
- Genes & Diseases Vol. 10, Issue 3, (2023)
- 作者机构：
  
  Department of Respiratory and Critical Care Medicine, Shenzhen Key Laboratory of Respiratory Diseases, Shenzhen Respiratory Disease Prevention Center, Shenzhen Institute of Respiratory Diseases, Shenzhen People's Hospital (Second Clinical Medical College of Jinan University & First Affiliated Hospital of Southern University of Science and Technology),Guangdong,Shenzhen,China,518020
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2022.10.013
  CLC：
- Published：2023，
  
  Published Online：1 May 2023，
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Mengjie Feng, Xiu Yu, Yongjian Yue, et al. Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome. [J]. Genes & Diseases 10(3).(2023)
DOI：

Mengjie Feng, Xiu Yu, Yongjian Yue, et al. Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome. [J]. Genes & Diseases 10(3).(2023) DOI： 10.1016/j.gendis.2022.10.013.

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Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome