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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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Veröffentlicht in:Front Pediatr
Hauptverfasser: Mirra, Virginia, Werner, Claudius, Santamaria, Francesca
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2017
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5465251/
https://ncbi.nlm.nih.gov/pubmed/28649564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00135
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