Joubert syndrome: insights into brain development, cilium biology, and complex disease
D Doherty - Seminars in pediatric neurology, 2009 - Elsevier
Joubert syndrome (JS) is a primarily autosomal recessive condition characterized by
hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-
hindbrain malformation (the “molar tooth sign”). Variable features include retinal dystrophy,
cystic kidney disease, liver fibrosis and polydactyly. Recently, substantial progress has been
made in our understanding of the genetic basis of JS, including identification of seven
causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B and CC2D2A) …
hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-
hindbrain malformation (the “molar tooth sign”). Variable features include retinal dystrophy,
cystic kidney disease, liver fibrosis and polydactyly. Recently, substantial progress has been
made in our understanding of the genetic basis of JS, including identification of seven
causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B and CC2D2A) …
