Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives

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...

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Bibliographic Details
Main Authors: Samuel A. Collins, Woolf T. Walker, Jane S. Lucas
Format: Article
Language:English
Published: MDPI AG 2014-05-01
Series:Journal of Clinical Medicine
Subjects:
primary ciliary dyskinesia
cystic fibrosis
genetic testing
screening
mutation
cilia
diagnosis
Online Access:http://www.mdpi.com/2077-0383/3/2/491

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http://www.mdpi.com/2077-0383/3/2/491

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