Varma, Chaitanya PV and Bhat, Ramesh Y and Bhatt, Sonia (2013) Bardet-Biedl syndrome in two sisters: A rare incidence. Journal of Pediatric Genetics, 2 (1). pp. 49-52. ISSN 2146-4596
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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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Bardet-Biedl; hypogonadism; polydactyly; retinal dystrophy; sibling. |
| Subjects: | Medicine > KMC Manipal > Paediatrics |
| Depositing User: | KMC Manipal |
| Date Deposited: | 09 Dec 2013 04:25 |
| Last Modified: | 09 Dec 2013 04:25 |
| URI: | http://eprints.manipal.edu/id/eprint/137936 |
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