European Journal of Human Genetics - Bardet-Biedl syndrome
The syndrome is often divided into two entities: Laurence–Moon syndrome and Bardet–Biedl Syndrome (BBS), but there is considerable phenotypic overlap, ...
http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2012115a.html
Interesting article about gene therapy restoring sense of smell in mice, - exciting implications for future therapies across other parts of the body affected by faulty cilia.