Ontology highlight
ABSTRACT:
SUBMITTER: Scheidecker S
PROVIDER: S-EPMC3966300 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Scheidecker Sophie S Etard Christelle C Pierce Nathan W NW Geoffroy Véronique V Schaefer Elise E Muller Jean J Chennen Kirsley K Flori Elisabeth E Pelletier Valérie V Poch Olivier O Marion Vincent V Stoetzel Corinne C Strähle Uwe U Nachury Maxence V MV Dollfus Hélène H
Journal of medical genetics 20130911 2
<h4>Background</h4>Bardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with the protein BBIP1/BBIP10 into the BBSome, a protein complex that ferries signalling receptors to and from cilia.<h4>Methods and results</h4>Exome sequencing performed on a sporadic BBS case re ...[more]