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Article

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred.

BMC medical genetics - 2 Aug 2018

Drabkin Max, Birk Ohad S, Birk Ruth

Abstract excerpt

BACKGROUND: The hypothalamic G-protein-coupled-receptor melanocortin-4 receptor (MC4R) is a key player in the central circuit regulating energy expenditure and appetite. Heterozygous loss-of-function MC4R mutations are the most common known genetic cause of monogenic human obesity, with more than 200 mutations described to date, affecting 2-3% of the population in various cohorts tested. Homozygous or compound...

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Source

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Identifiers

PMID: 30068297
DOI: 10.1186/s12881-018-0654-1
PMCID: PMC6090656

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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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