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Article

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

The Journal of clinical endocrinology and metabolism - 1 Mar 2011

Feuillan Penelope P, Ng David, Han Joan C, Sapp Julie C, Wetsch Katie, Spaulding Emma, Zheng Yuqian C, Caruso Rafael C, Brooks Brian P, Johnston Jennifer J, Yanovski Jack A, Biesecker Leslie G

Abstract excerpt

OBJECTIVE: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder of the primary cilium associated with obesity. In BBS mouse models, ciliary dysfunction leads to impaired leptin signaling and hyperleptinemia before obesity onset. To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls. DESIGN AND METHODS: Fifty patients with...

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Identifiers

PMID: 21209035
DOI: 10.1210/jc.2010-2290
PMCID: PMC3047221

Genes

BBS1
BBS10

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