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- W2293526533 abstract "Primary ciliary dyskinesia (PCD) is a genetic disease of motile cilia, which belongs to a group of disorders resulting from dysfunction of cilia, collectively known as ciliopathies. Insights into the genetics and phenotypes of PCD have grown over the last decade, in part propagated by the discovery of a number of novel cilia-related genes. These genes encode proteins that segregate into structural axonemal, regulatory, as well as cytoplasmic assembly proteins. Our understanding of primary (sensory) cilia has also expanded, and an ever-growing list of diverse conditions has been linked to defective function and signaling of the sensory cilium. Recent multicenter clinical and genetic studies have uncovered the heterogeneity of motile and sensory ciliopathies, and in some cases, the overlap between these conditions. Here, we will describe the genetics and pathophysiology of ciliopathies in children, focusing on PCD, review emerging genotype-phenotype relationships, and diagnostic tools available for the clinician." @default.
- W2293526533 created "2016-06-24" @default.
- W2293526533 creator A5031090086 @default.
- W2293526533 creator A5073775080 @default.
- W2293526533 date "2016-03-28" @default.
- W2293526533 modified "2023-10-18" @default.
- W2293526533 title "Primary ciliary dyskinesia and associated sensory ciliopathies" @default.
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- W2293526533 doi "https://doi.org/10.1586/17476348.2016.1165612" @default.
- W2293526533 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4893162" @default.
- W2293526533 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26967669" @default.
- W2293526533 hasPublicationYear "2016" @default.
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