Articles with "ciliopathy subgroups" as a keyword



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Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

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Published in 2021 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-021-00907-9

Abstract: Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell. This group of disorders is marked by genetic and clinical heterogeneity, which… read more here.

Keywords: ciliopathy subgroups; cilium; diagnosis; cilium phenotype ... See more keywords