Literature DB >> 27437293

Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome.

Bharath Chhabria1, Ram Nampoothiri2, Vikas Suri3, Sanjay Jain4.   

Abstract

Entities:  

Keywords:  Brachydactyly; Hypogonadism; Polydactyly; Retinitis pigmentosa

Year:  2016        PMID： 27437293      PMCID： PMC4948469          DOI： 10.7860/JCDR/2016/18321.7754

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN： 0973-709X


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  5 in total

1.  Bardet-Biedl syndrome.

Authors:  Elizabeth Forsythe; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

2.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.

Authors:  J Z Laurence; R C Moon
Journal:  Obes Res       Date:  1995-07

4.  A pair of siblings with adiposo-genital dystrophy. 1922.

Authors:  A Biedl
Journal:  Obes Res       Date:  1995-07

5.  On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.

Authors:  G Bardet
Journal:  Obes Res       Date:  1995-07
  5 in total

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