Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic
tubulointerstitial nephritis that progress to terminal renal failure during the second decade …

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 …

Introduction Rare diseases affect approximately 350 million people worldwide. Delayed
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …

Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel
(MKS) syndrome belong to the group of developmental autosomal recessive disorders that …

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed
ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also …

Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are
ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by …

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by
central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal …

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here …

Cilia and flagella are eukaryotic organelles involved in multiple cellular functions. The
primary cilium is generally non motile and found in numerous vertebrate cell types where it …