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

With the application of modern investigative technologies, cholestatic liver diseases of
genetic etiology are increasingly identified as the root cause of previously designated …

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

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

Purpose Joubert syndrome (JS) is caused by mutations in> 34 genes that encode proteins
involved with primary (nonmotile) cilia and the cilium basal body. This study describes the …

With the application of modern investigative technologies, cholestatic liver diseases of
genetic etiology are increasingly identified as the root cause of previously designated …

Objectives: Although a number of genetic forms of cholestasis have been identified, the
genetic etiology of disease remains unidentified in a subset of cholestasis patients. Methods …

Ciliopathies encompass a broad spectrum of diseases stemming from dysfunction of the
primary (non-motile) cilia, present on almost all cells in the human body. These disorders …

Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and
recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders …

Joubert syndrome (JBTS), a rare genetic disorder resulted from primary cilium defects or
basal-body dysfunction, is characterized by agenesis of cerebellar vermis and abnormal …