Use of Isolated Populations in the Study of a Human Obesity Syndrome, the Bardet-Biedl Syndrome

@article{Sheffield2004UseOI,
  title={Use of Isolated Populations in the Study of a Human Obesity Syndrome, the Bardet-Biedl Syndrome},
  author={Val C. Sheffield},
  journal={Pediatric Research},
  year={2004},
  volume={55},
  pages={908-911}
}
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder with the cardinal features of obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. The clinical diagnosis is based on the presence of at least four of the cardinal symptoms. BBS is recognized to be a genetically heterogeneous autosomal recessive disorder mapping to… CONTINUE READING

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