Clinical and Biological Phenotypes of Patients Carrying a Heterozygous Variant in Genes of Leptin-Melanocortin Signaling Pathway
Our study highlights the clinical relevance of family segregation in reclassifying VUS within the leptin-melanocortin pathway and underscores the diagnostic value of early obesity onset in identifying potential monogenic forms.
Authors
- Kévin Perge (ORCID: https://orcid.org/0000-0002-6527-805X)
- Marc Nicolino
- Bérénice Segrestin (ORCID: https://orcid.org/0000-0001-7926-0144)
- Emmanuel Disse
- E. Dieterlen
- Delphine Collin-Chavagnac
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Hôpital Femme Mère Enfant (FR)
- Hospices Civils de Lyon (FR)
- Hôpital Lyon Sud (FR)
- Laboratoire de recherche en cardiovasculaire, métabolisme, diabétologie et nutrition (FR)
- HCL Technologies (India) (IN)
Publication Details
- Journal
- Childhood Obesity
- Published
- 2026-02-12
- DOI
- https://doi.org/10.1177/21532176261423352
- Primary Topic
- Regulation of Appetite and Obesity
- Type
- article
- Field-Weighted Citation Impact
- 0.00