Ontology highlight
ABSTRACT:
SUBMITTER: Keeler LC
PROVIDER: S-EPMC1180691 | biostudies-literature | 2003 Sep
REPOSITORIES: biostudies-literature
American journal of human genetics 20030813 3
Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation. A form of JS that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of JS, called either "JS type B" or "cerebello-oculo-renal syndrome" (CORS), but the genetic basis of this condition is unknown. Here, we describe three consan ...[more]