Ontology highlight
ABSTRACT:
SUBMITTER: Zaghloul NA
PROVIDER: S-EPMC2648685 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Zaghloul Norann A NA Katsanis Nicholas N
The Journal of clinical investigation 20090302 3
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cell ...[more]