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

Mengjie Feng; Xiu Yu; Yongjian Yue; Jiacheng Zhong; Lingwei Wang

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

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
- Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
- Genes & Diseases 2023年10卷第3期
- 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
  中图分类号：
- 纸质出版日期：2023，
  
  网络出版日期：2023-5-1，
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Mengjie Feng, Xiu Yu, Yongjian Yue, 等. Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome[J]. Genes & Diseases, 2023,10(3).

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

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, 2023,10(3). 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

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

DOI：10.1016/j.gendis.2022.10.013

摘要

Abstract

关键词

Keywords

references