Progress of research on the pathogenesis of obesity in Bardet-Biedl syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 871-874, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-345343
ABSTRACT
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has been associated with leptin resistance and abnormal adipogenesis. However, its molecular etiology is not yet completely clear. Here the molecular mechanism of BBS-associated obesity is reviewed.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Polidactilia
/
Síndrome de Bardet-Biedl
/
Genética
/
Obesidade
Tipo de estudo:
Estudo de etiologia
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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