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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Síndrome de Bardet-Biedl
/
Investigación Biomédica
/
Genética
/
Metabolismo
/
Obesidad
Límite:
Animales
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Artículo
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