Bardet-Biedl syndrome in two sisters: A rare incidence

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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