Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper...

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Bibliographic Details
Main Authors: Virginia Mirra, Claudius Werner, Francesca Santamaria
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-06-01
Series:Frontiers in Pediatrics
Subjects:
primary ciliary dyskinesia
Kartagener’s syndrome
bronchiectasis
ciliopathy
mucociliary clearance
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2017.00135/full

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