Articles tagged with Ciliopathy
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Bardet Biedl
Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by retinal dystrophy, obesity, renal abnormalities, genital abnormalities, postaxial polydactyly, and learning difficulties. To date, mutations in more than 20 different genes have been described as being responsible…
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Meckel Syndrome Panel
Meckel syndrome (MES), also known as Meckel-Gruber syndrome, belongs to the group of ciliopathies, caused by dysfunction of primary cilia during embryogenesis.
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A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.