Literature DB >> 19079403

Laurence-Moon-Bardet-Biedl syndrome.

J K Sahu1, V Jain.   

Abstract

Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. We report a case of Laurence-Moon-Bardet-Biedl syndrome with typical phenotype in conjunction with nonalcoholic steatohepatitis. The diagnosis had been missed until the patient presented at our hospital.

Entities:  

Mesh：

Year:  2008        PMID： 19079403

Source DB:  PubMed          Journal:  JNMA J Nepal Med Assoc        ISSN： 0028-2715            Impact factor:   0.406


  5 in total

1.  Bardet biedel syndrome: a very rare entity in India.

Authors:  Rupal V Dosi; Nikita R Bhatt; Annirudh P Ambaliya; Nitin N Sonune; Rushad D Patell
Journal:  J Clin Diagn Res       Date:  2013-09-10

2.  Bardet-biedl syndrome: a rare cause of chronic kidney disease.

Authors:  Vivek B Kute; Aruna V Vanikar; Manoj R Gumber; Himanshu V Patel; Pankaj R Shah; Sachin B Patil; Hargovind L Trivedi
Journal:  Indian J Clin Biochem       Date:  2012-10-30

3.  [Non-alcoholic steatohepatitis and cirrhosis in young adult patients with hypothalamic-pituitary dysfunction].

Authors:  D Goltz; K Schötta; H Zhou; H-P Fischer
Journal:  Pathologe       Date:  2013-07       Impact factor: 1.011

4.  Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Authors:  Fadi Nasser; Susanne Kohl; Anne Kurtenbach; Melanie Kempf; Saskia Biskup; Theresia Zuleger; Tobias B Haack; Nicole Weisschuh; Katarina Stingl; Eberhart Zrenner
Journal:  Genes (Basel)       Date:  2022-07-08       Impact factor: 4.141

5.  Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population.

Authors:  Omair A Khan; Ramsha Majeed; Muhammad Saad; Asad Khan; Ayesha Ghassan
Journal:  Cureus       Date:  2019-02-21
  5 in total

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