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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 Dans Chinois | 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.
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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Phénotype / Polydactylie / Syndrome de Bardet-Biedl / Génétique / Obésité Type d'étude: Etude d'étiologie Limites du sujet: Humains langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2016 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Phénotype / Polydactylie / Syndrome de Bardet-Biedl / Génétique / Obésité Type d'étude: Etude d'étiologie Limites du sujet: Humains langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2016 Type: Article