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Article

Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.

The Journal of clinical endocrinology and metabolism - 27 Sept 2021

Courbage Sophie, Poitou Christine, Le Beyec-Le Bihan Johanne, Karsenty Alexandra, Lemale Julie, Pelloux Véronique, Lacorte Jean-Marc, Carel Jean-Claude, Lecomte Nathalie, Storey Caroline, De Filippo Gianpaolo, Coupaye Muriel, Oppert Jean-Michel, Tounian Patrick, Clément Karine, Dubern Béatrice

Abstract excerpt

CONTEXT: Unlike homozygous variants, the implication of heterozygous variants on the leptin-melanocortin pathway in severe obesity has not been established. OBJECTIVE: To describe the frequency, the phenotype, and the genotype-phenotype relationship for heterozygous variants in LEP, LEPR, POMC, and PCSK1 in severe obesity. METHODS: In this retrospective study, genotyping was performed on at least 1 of the LEP,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 34097736
DOI: 10.1210/clinem/dgab404

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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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