Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a
distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular …

Mutations in PKD1 (encoding for polycystin-1 [PC1]) are found in 80%–85% of patients with
autosomal dominant polycystic kidney disease (ADPKD). We tested the hypothesis that …

Background Ciliopathies are an extensive group of autosomal recessive or X-linked
disorders with considerable genetic and clinical overlap, which collectively share multiple …

Joubert syndrome (JS) is rare recessive disorders characterized by the combination of
hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar …

A long-standing mystery in the centrosome field pertains to the origin of asymmetry within
the organelle. The removal of daughter centriole-specific/enriched proteins (DCPs) and …

A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal
and skeletal involvements, was also diagnosed with lung infections and airway ciliary …

The primary cilium is a cellular antenna found on the surface of many eukaryotic cells,
whose main role is to sense and transduce signals that regulate growth, development, and …

Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous
visual defects with parallel genetic brain disorders. While the manifestations of CVIs are …

Background In chicken, loss of TALPID3 results in non-functional cilia and short-rib
polydactyly syndrome. This phenotype is caused by a frameshift mutation in the chicken …

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can
affect several organ systems. Mutations in known JBTS genes account for approximately half …