Bardet-Biedl syndrome in two sisters: A rare incidence

Chaitanya Varma; Ramesh Y. Bhat; Sonia Bhatt

doi:10.3233/PGE-13048

Bardet-Biedl syndrome in two sisters: A rare incidence

Chaitanya Varma, Ramesh Y. Bhat, Sonia Bhatt

Department of Paediatrics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.3233/PGE-13048
Publication status	Published - 01-01-2013

All Science Journal Classification (ASJC) codes

Genetics(clinical)
Pediatrics, Perinatology, and Child Health

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10.3233/PGE-13048

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title = "Bardet-Biedl syndrome in two sisters: A rare incidence",

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.",

author = "Chaitanya Varma and Bhat, {Ramesh Y.} and Sonia Bhatt",

year = "2013",

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AU - Varma, Chaitanya

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AU - Bhatt, Sonia

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AB - 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.

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Bardet-Biedl syndrome in two sisters: A rare incidence

Abstract

All Science Journal Classification (ASJC) codes

UN SDGs

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