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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.

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  • A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome
    Related Articles

    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

    Abstract
    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

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