Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Chronic pain is highly prevalent worldwide and represents a significant socioeconomic and
public health burden. Several aspects of chronic pain, for example back pain and a severity …

Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …

Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …

The variation in weight within a shared environment is largely attributable to genetic factors.
Whilst many genes/loci confer susceptibility to obesity, little is known about the genetic …

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …

Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle,
the primary cilia. Affected patients often present with disorders involving multiple organ …

Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive
neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of …