Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome

BACKGROUND: Primary ciliary dyskinesia (PCD) is a clinical syndrome characterized by cilia with an abnormal structure or function. Its main clinical manifestations comprise chronic bronchitis, cough, recurrent respiratory infections, situs inversus, and male infertility. Single-gene variants are wid...

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Detalles Bibliográficos
Autores principales: Shi, Xiao, Geng, Hao, Yu, Hui, Hu, Xiaolong, Wang, Guanxiong, Yang, Jin, Zhao, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251071/
https://www.ncbi.nlm.nih.gov/pubmed/35795318
http://dx.doi.org/10.1155/2022/7130555

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251071/
https://www.ncbi.nlm.nih.gov/pubmed/35795318
http://dx.doi.org/10.1155/2022/7130555

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