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Article

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.

Hormones (Athens, Greece) - 1 Jul 2016

Neocleous Vassos, Shammas Christos, Phelan Marie M, Fanis Pavlos, Pantelidou Maria, Skordis Nicos, Mantzoros Christos, Phylactou Leonidas A, Toumba Meropi

Abstract excerpt

OBJECTIVE: Heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity, tall stature, pale skin and red hair. CASE REPORT: Clinical and hormonal parameters were evaluated in a girl born full-term by non-consanguineous parents. Her body mass index (BMI) at presentation (3 years) was...

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Share to Alpha-Ketoglutarate-Dependent Dioxygenase FTO
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Melanocortin, Type 1

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Source

Identifiers

PMID: 27394708
DOI: 10.14310/horm.2002.1686

Genes

FTO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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