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Article

Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.

BMC medical genetics - 12 Mar 2009

Santoro Nicola, Cirillo Grazia, Xiang Zhimin, Tanas Rita, Greggio Nella, Morino Giuseppe, Iughetti Lorenzo, Vottero Alessandra, Salvatoni Alessandro, Di Pietro Mario, Balsamo Antonio, Crinò Antonino, Grandone Anna, Haskell-Luevano Carrie, Perrone Laura, del Giudice Emanuele Miraglia

Abstract excerpt

BACKGROUND: Melanocortin-4-receptor (MC4R) mutations represent the most frequent genetic cause of non-syndromic early onset obesity. Children carrying MC4R mutations seem to show a particular phenotype characterized by early onset, severe obesity and high stature. To verify whether MC4R mutations are associated with this particular phenotype in the Italian pediatric population, we decided to screen the MC4R gene...

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Identifiers

PMID: 19284607
DOI: 10.1186/1471-2350-10-25
PMCID: PMC2664798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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