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

• Main Authors: Liqing Zhao (Author), Suqiu Huang (Author), Wei Wei (Author), Bingyao Zhang (Author), Wenxiang Shi (Author), Yongzhou Liang (Author), Rang Xu (Author), Yurong Wu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...