Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives
Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive condition affecting around 1:15,000. In people with PCD, microscopic motile cilia do not move normally resulting in impaired clearance of mucus and debris leading to repeated sinopulmonary infection. If diagnosis is delayed, per...
| Main Authors: | , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
MDPI
2014
|
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449687/ |