Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition.
|Number of pages||4|
|Journal||Journal of Pediatric Genetics|
|Publication status||Published - 01-01-2013|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health