Journal
TRENDS IN MOLECULAR MEDICINE
Volume 10, Issue 3, Pages 106-109Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2004.01.003
Keywords
-
Ask authors/readers for more resources
Bardet-Biedl Syndrome (BBS) is a genetic disorder with the primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BIBS protein function. Ansley et al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available