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Article

Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene.

American journal of human genetics - 1 Dec 1999

Sina M, Hinney A, Ziegler A, Neupert T, Mayer H, Siegfried W, Blum W F, Remschmidt H, Hebebrand J

Abstract excerpt

Recently, haploinsufficiency mutations in the melanocortin-4 receptor gene (MC4-R) were detected which were assumed to lead to the phenotype of extreme obesity. Previously, we detected three obese carriers among 306 index patients. Here we describe the detection of one haploinsufficiency carrier in an additional study group of 186 obese individuals. We subsequently genotyped and phenotyped 43 family members of...

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Identifiers

PMID: 10577903
DOI: 10.1086/302660
PMCID: PMC1288360

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