Bardet–Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several
features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and …

The ciliopathies are a group of heterogeneous diseases with considerable variations in
phenotype for allelic conditions such as Meckel–Gruber syndrome (MKS) and Joubert …

Mutations in the cilium-associated protein CEP290 cause retinal degeneration as part of
multiorgan ciliopathies or as retina-specific diseases. The precise location and the functional …

The ciliopathies are an apparently disparate group of human diseases that all result from
defects in the formation and/or function of cilia. They include disorders such as Meckel …

Thomas W. Ferkol, MD1, and Margaret W. Leigh, MD2 Cilia are evolutionarily conserved
hair-like structures with key roles in cell locomotion, fluid movement, and sexual …

The expansive family of metazoan ADP-ribosylation factor and ADP-ribosylation factor-like
small GTPases is known to play essential roles in modulating membrane trafficking and …

Proper functioning of cilia, hair-like structures responsible for sensation and locomotion,
requires nephrocystin-5 (NPHP5) and a multi-subunit complex called the Bardet–Biedl …

The ciliopathies are a group of related inherited diseases characterized by malformations in
organ development. The diseases affect multiple organ systems, with kidney, skeleton, and …

Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by
psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and …

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis
hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients …