Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport

@article{Blacque2006BardetBiedlSA,
  title={Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport},
  author={Oliver E Blacque and Michel R. Leroux},
  journal={Cellular and Molecular Life Sciences CMLS},
  year={2006},
  volume={63},
  pages={2145-2161}
}
From a handful of uncloned genetic loci 6 years ago, great strides have been made in understanding the genetic and molecular aetiology of Bardet-Biedl syndrome (BBS), a rare pleiotropic disorder characterised by a multitude of symptoms, including obesity, retinal degeneration and cystic kidneys. Presently, 11 BBS genes have been cloned, with the likelihood that yet more BBS genes remain undiscovered. In 2003, a major breakthrough was made when it was shown that BBS is likely caused by defects… CONTINUE READING

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