Associated Papers
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
31653860 (PubMed )
Supplement: 41467_2019_12869_MOESM3_ESM.xlsx › Testing_Cohort_Variants
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population.
Marti A et al.
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2003
Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype?
Cone RD
The Journal of Clinical Investigation, 2000
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity.
Vaisse C et al.
The Journal of Clinical Investigation, 2000
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