Articles with "scaper" as a keyword



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SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

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Published in 2019 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-019-0347-z

Abstract: Studies of ciliopathies have served in elucidating much of our knowledge of structure and function of primary cilia. We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, short stature and brachydactyly,… read more here.

Keywords: bardet biedl; biedl syndrome; scaper; primary cilia ... See more keywords