Articles with "primary ciliopathies" as a keyword



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Patient-derived cellular models of primary ciliopathies

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Published in 2022 at "Journal of Medical Genetics"

DOI: 10.1136/jmedgenet-2021-108315

Abstract: Primary ciliopathies are rare inherited disorders caused by structural or functional defects in the primary cilium, a subcellular organelle present on the surface of most cells. Primary ciliopathies show considerable clinical and genetic heterogeneity, with… read more here.

Keywords: derived cellular; models primary; patient derived; primary ciliopathies ... See more keywords