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

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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Bibliographic Details
Main Authors: Liqing Zhao, Suqiu Huang, Wei Wei, Bingyao Zhang, Wenxiang Shi, Yongzhou Liang, Rang Xu, Yurong Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Pediatrics
Subjects:
primary ciliary dyskinesia
CCDC40
situs inversus
annular pancreas
pathogenic mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.996332/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.996332/full

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