Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family

Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy affecting the cilia and sperm flagella. Mutations in genes related to the structural and functional defects of respiratory ciliary axoneme have been reported to be the predominant cause of this symptom; however...

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Detalles Bibliográficos
Autores principales: Gao, Yang, Xu, Chuan, Tan, Qing, Shen, Qunshan, Wu, Huan, Lv, Mingrong, Li, Kuokuo, Tang, Dongdong, Song, Bing, Xu, Yuping, Zhou, Ping, Wei, Zhaolian, Tao, Fangbiao, Cao, Yunxia, He, Xiaojin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362595/
https://www.ncbi.nlm.nih.gov/pubmed/34394199
http://dx.doi.org/10.3389/fgene.2021.715339

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362595/
https://www.ncbi.nlm.nih.gov/pubmed/34394199
http://dx.doi.org/10.3389/fgene.2021.715339

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