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