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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Polydactyly
/
Bardet-Biedl Syndrome
/
Genetics
/
Obesity
Type of study:
Etiology study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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