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:
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