56. Laurence-moon-biedl-bardet syndrome: an overview

Article type: Letter to Editor                                                                                    

Article title: Laurence-moon-biedl-bardet syndrome: an overview

 

Journal: Taiwan Journal of Ophthalmology

Year: 2020

Authors: Jamir Pitton Rissardo, Ana Letícia Fornari Caprara           

E-mail: jamirrissardo@gmail.com

 

ABSTRACT

Bardet-Biedl syndrome (BBS) is historically known as Laurence–Moon–Biedl–Bardet syndrome, in which each word represents the name of the first authors to publish this genetic disorder. The cause of this syndrome is probably associated with a mutation in a gene responsible for some part of the cilia anchoring structures. As a result, this disease is considered a ciliopathy. Here, we would like to highlight some important topics that, together with the study of Shrinkhal et al. could lead to a better comprehension of this rare disorder.

Keywords: Bardet-biedl syndrome, laurence-moon-biedl-bardet syndrome, mnemonic


Full text available at:

https://www.e-tjo.org/article.asp?issn=2211-5056;year=2021;volume=11;issue=1;spage=108;epage=109;aulast=Rissardo

 

DOI

10.4103/tjo.tjo_2_20

 

Citation

Rissardo JP, Fornari Caprara AL. Laurence-moon-biedl-bardet syndrome: an overview. Taiwan J Ophthalmol 2021;11:108-9