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Article

A Novel Loss of Function Melanocortin-4-Receptor Mutation (MC4R-F313Sfs*29) in Morbid Obesity.

The Journal of clinical endocrinology and metabolism - 8 Mar 2021

Trevellin Elisabetta, Granzotto Marnie, Host Cristina, Grisan Francesca, De Stefani Diego, Grinzato Alessandro, Lefkimmiatis Konstantinos, Pagano Claudio, Rizzuto Rosario, Vettor Roberto

Abstract excerpt

CONTEXT: Melanocortin receptor-4 (MC4R) gene mutations are associated with early-onset severe obesity, and the identification of potential pathological variants is crucial for the clinical management of patients with obesity. OBJECTIVE: To explore whether and how a novel heterozygous MC4R variant (MC4R-F313Sfs*29), identified in a young boy (body mass index [BMI] 38.8 kg/m2) during a mutation analysis conducted...

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Identifiers

PMID: 33247923
DOI: 10.1210/clinem/dgaa885

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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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