Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

@article{Chiang2004ComparativeGA,
  title={Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).},
  author={Annie P Chiang and Darryl Y Nishimura and C Alexander Searby and Khalil Elbedour and Rivka Carmi and Amanda L Ferguson and Jenifer Secrist and Terry Braun and Thomas L. Casavant and Edwin M. Stone and Val C. Sheffield},
  journal={American journal of human genetics},
  year={2004},
  volume={75 3},
  pages={475-84}
}
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previously mapped to chromosome 3 by linkage analysis in a large Israeli Bedouin kindred. The rarity of other families mapping to the BBS3 locus has made it difficult to narrow the disease interval… CONTINUE READING
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