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Article

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

The New England journal of medicine - 20 Mar 2003

Farooqi I Sadaf, Keogh Julia M, Yeo Giles S H, Lank Emma J, Cheetham Tim, O'Rahilly Stephen

Abstract excerpt

BACKGROUND: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of obesity. However, the clinical spectrum and mode of inheritance have not been defined, pathophysiological mechanisms leading to obesity are poorly understood, and there is little information regarding genotype-phenotype correlations. METHODS: We determined the nucleotide sequence of the MC4R gene in 500 probands with severe...

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Identifiers

PMID: 12646665
DOI: 10.1056/NEJMoa022050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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