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Clinical and Biological Phenotypes of Patients Carrying a Heterozygous Variant in Genes of Leptin-Melanocortin Signaling Pathway.

Childhood obesity (Print) - 1 Apr 2026

Dieterlen Elsa, Collin-Chavagnac Delphine, Segrestin Bérénice, Nicolino Marc, Disse Emmanuel, Perge Kevin

Abstract excerpt

BACKGROUND: Obesity is a multifactorial condition and represents a major public health issue. In 5% of cases, obesity is monogenic, secondary to an abnormality in a gene of the leptin-melanocortin signaling pathway. OBJECTIVES: The aim of our retro-prospective descriptive study is to reclassify heterozygous variants of unknown significance (VUS) and to describe the clinical and biological phenotypes of the...

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PMID: 41680086
DOI: 10.1177/21532176261423352

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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