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Article

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Diabetes - 1 Sept 2008

Stutzmann Fanny, Tan Karen, Vatin Vincent, Dina Christian, Jouret Béatrice, Tichet Jean, Balkau Beverley, Potoczna Natascha, Horber Fritz, O'Rahilly Stephen, Farooqi I Sadaf, Froguel Philippe, Meyre David

Abstract excerpt

OBJECTIVE: Melanocortin-4 receptor (MC4R) deficiency is the most frequent genetic cause of obesity. However, there is uncertainty regarding the degree of penetrance of this condition, and the putative impact of the environment on the development of obesity in MC4R mutation carriers is unknown. RESEARCH DESIGN AND METHODS: We determined the MC4R sequence in 2,257 obese individuals and 2,677 nonobese control...

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Identifiers

PMID: 18559663
DOI: 10.2337/db08-0153
PMCID: PMC2518504

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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