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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North‐African patients have been rarely explored. In this study, we aim at… Click to show full abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North‐African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed.
Keywords:
primary ciliary;
ciliary dyskinesia;
pcd;
dyskinesia gene;
gene contribution
Journal Title: Human Mutation
Year Published: 2019
Link to full text (if available)
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Journal Title: Human Mutation
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!