Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two nov...

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Detalles Bibliográficos
Autores principales: Zhao, Liqing, Huang, Suqiu, Wei, Wei, Zhang, Bingyao, Shi, Wenxiang, Liang, Yongzhou, Xu, Rang, Wu, Yurong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9559825/
https://www.ncbi.nlm.nih.gov/pubmed/36245716
http://dx.doi.org/10.3389/fped.2022.996332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9559825/
https://www.ncbi.nlm.nih.gov/pubmed/36245716
http://dx.doi.org/10.3389/fped.2022.996332

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