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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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Bibliografski detalji
Izdano u:Front Pediatr
Glavni autori: Mirra, Virginia, Werner, Claudius, Santamaria, Francesca
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2017
Teme:
Online pristup: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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