Article
Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity.
Frontiers in endocrinology - 1 Jan 2020
Loid Petra, Mustila Taina, Mäkitie Riikka E, Viljakainen Heli, Kämpe Anders, Tossavainen Päivi, Lipsanen-Nyman Marita, Pekkinen Minna, Mäkitie Outi
Abstract excerpt
Context: The hypothalamic circuit has an essential role in the regulation of appetite and energy expenditure. Pathogenic variants in genes involved in the hypothalamic leptin-melanocortin pathway, including melanocortin-4-receptor (MC4R), have been associated with monogenic obesity. Objective: To determine the rate and spectrum of rare variants in genes involved in melanocortin pathway or hypothalamic development...
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