Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

Abstract Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder
characterized by a specific congenital malformation of the hindbrain and a broad spectrum …

Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney
diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only …

The study of liver development has significantly contributed to developmental concepts
about morphogenesis and differentiation of other organs. Knowledge of the mechanisms …

Hepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human
disorders. The discovery that proteins defective in the autosomal dominant and recessive …

The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered
an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys …

Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive
conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual …

Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by
cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the" molar tooth …

Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar
vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory …

Biliary atresia (BA) is the most common and important neonatal hepatobiliary disorder.
Because current treatment is inadequate, there is an urgent need to better understand the …