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

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

Abstract 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...

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Bibliographic Details
Main Authors: Max Drabkin, Ohad S. Birk, Ruth Birk
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Medical Genetics
Subjects:
MC4R
Obesity
Mutation
Homozygous
Heterozygous
Online Access:http://link.springer.com/article/10.1186/s12881-018-0654-1

Internet

http://link.springer.com/article/10.1186/s12881-018-0654-1

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