Homozygous mutation in DNAAF4 causes primary ciliary dyskinesia in a Chinese family

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder that affects the structure and function of motile cilia, leading to classic clinical phenotypes, such as situs inversus, chronic sinusitis, bronchiectasis, repeated pneumonia and infertility. In this study, we diagnosed a female...

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Detalles Bibliográficos
Autores principales: Jiang, Guoliang, Zou, Lijun, Long, Lingzhi, He, Yijun, Lv, Xin, Han, Yuanyuan, Yao, Tingting, Zhang, Yan, Jiang, Mao, Peng, Zhangzhe, Tao, Lijian, Xie, Wei, Meng, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792849/
https://www.ncbi.nlm.nih.gov/pubmed/36583018
http://dx.doi.org/10.3389/fgene.2022.1087818

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792849/
https://www.ncbi.nlm.nih.gov/pubmed/36583018
http://dx.doi.org/10.3389/fgene.2022.1087818

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