Article
Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature - 4 Feb 2010
Bochukova Elena G, Huang Ni, Keogh Julia, Henning Elana, Purmann Carolin, Blaszczyk Kasia, Saeed Sadia, Hamilton-Shield Julian, Clayton-Smith Jill, O'Rahilly Stephen, Hurles Matthew E, Farooqi I Sadaf
Abstract excerpt
Obesity is a highly heritable and genetically heterogeneous disorder. Here we investigated the contribution of copy number variation to obesity in 300 Caucasian patients with severe early-onset obesity, 143 of whom also had developmental delay. Large (>500 kilobases), rare (<1%) deletions were significantly enriched in patients compared to 7,366 controls (P < 0.001). We identified several rare copy number...
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