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Bardet-Biedl syndrome in two sisters: A rare incidence

Chaitanya Varma1, Ramesh Y Bhat1, Sonia Bhatt1

  • 1Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India.

Journal of Pediatric Genetics
|September 15, 2016
PubMed

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.

Keywords:
Bardet-Biedlhypogonadismpolydactylyretinal dystrophysibling

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