PubMed Latest Articles
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
Some of the papers are free to read; others require subscriptions.
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome
Biomedica. 2018 09 01;38(3):308-320
Authors: Ladino LY, Galvis J, Yasnó D, Ramírez A, Beltrán OI
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The