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Article

Melanocortin 4 receptor mutations become common.

Cell metabolism - 3 Aug 2021

Kühnen Peter, Biebermann Heike, Krude Heiko

Abstract excerpt

In a new paper, Wade et al. (2021) analyzed the frequency of MC4R loss-of-function (LoF) mutations in a population-based Avon Longitudinal Study of Parents and Children. The frequency was 1 in 337 and the authors showed that MC4R LoF variants significantly correlated with increased body weight and fat mass in children and adults (cumulating in additional 17.76 kg weight in adulthood). Hence, the authors provide...

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Identifiers

PMID: 34348096
DOI: 10.1016/j.cmet.2021.07.003

Provenance

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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