Primary cilia are generally solitary organelles that emanate from the surface of almost all
vertebrate cell types. Until recently, details regarding the function of these structures were …

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 …

Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial,
oral and digital abnormalities associated with a wide range of additional features (polycystic …

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by
hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined …

VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum
of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD …

Background Joubert syndrome is a clinically and genetically heterogeneous ciliopathy.
Neuroimaging findings have not been systematically evaluated in a large cohort of patients …

Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two
diagnostic criteria: molar tooth sign (MTS) and one or more of the following:(1) tongue …

Joubert syndrome (JS) is an autosomal recessive ciliopathy characterized by hypotonia,
ataxia, abnormal eye movements, and intellectual disability. The brain is malformed, with …

The embryologic development of the cerebellum extends over a long time period, thus
making it vulnerable to a broad spectrum of malformations and disruptions. Knowledge of …

Hypothalamic hamartomas are uncommon but well-recognized developmental
malformations that are classically associated with gelastic seizures and other refractory …