Articles tagged with Ciliopathy
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…
Meckel syndrome (MES), also known as Meckel-Gruber syndrome, belongs to the group of ciliopathies, caused by dysfunction of primary cilia during embryogenesis.
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.