Current status and implication of research on Bardet-Biedl syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 570-573, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-237205
ABSTRACT
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s. BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy, obesity, polydactyly, renal malformations and functional abnormalities, learning disabilities and hypogenitalism. BBS patients are also prone to diabetes mellitus, hypertension and congenital heart disease. To date, 16 BBS genes (BBS1-BBS16) have been identified. However, the molecular etiology of BBS is not yet entirely clear. In this article, we have reviewed recent research on BBS and discussed its implications for understanding of ciliopathology.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Bardet-Biedl
/
Pesquisa Biomédica
/
Genética
/
Metabolismo
/
Obesidade
Limite:
Animais
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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