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

• Váldodahkkit: Liqing Zhao (Dahkki), Suqiu Huang (Dahkki), Wei Wei (Dahkki), Bingyao Zhang (Dahkki), Wenxiang Shi (Dahkki), Yongzhou Liang (Dahkki), Rang Xu (Dahkki), Yurong Wu (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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...