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

^*Corresponding author for this work

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3233/PGE-13048

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@article{177898749ff543dda21a778e44eef92d,

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",

month = jan,

day = "1",

doi = "10.3233/PGE-13048",

language = "English",

volume = "2",

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journal = "Journal of Pediatric Genetics",

issn = "2146-4596",

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T2 - A rare incidence

AU - Varma, Chaitanya

AU - Bhat, Ramesh Y.

AU - Bhatt, Sonia

PY - 2013/1/1

Y1 - 2013/1/1

N2 - 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.

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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DO - 10.3233/PGE-13048

M3 - Article

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JO - Journal of Pediatric Genetics

JF - Journal of Pediatric Genetics

IS - 1

ER -

Bardet-Biedl syndrome in two sisters: A rare incidence

Abstract

All Science Journal Classification (ASJC) codes

UN SDGs

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