Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 49-52 |
| Number of pages | 4 |
| Journal | Journal of Pediatric Genetics |
| Volume | 2 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 01-01-2013 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
All Science Journal Classification (ASJC) codes
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health
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