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Chinese Journal of Medical Genetics ; (6): 871-874, 2016.
Artigo em Chinês | WPRIM | ID: wpr-345343

RESUMO

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.


Assuntos
Humanos , Síndrome de Bardet-Biedl , Genética , Obesidade , Genética , Fenótipo , Polidactilia , Genética
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