Monogenic forms of childhood obesity due to mutations in the leptin gene

Jan-Bernd Funcke, Julia von Schnurbein, Belinda Lennerz, Georgia Lahr, Klaus-Michael Debatin, Pamela Fischer-Posovszky, Martin Wabitsch

doi:10.1186/s40348-014-0003-1

Monogenic forms of childhood obesity due to mutations in the leptin gene

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<jats:title>Abstract</jats:title> <jats:p>Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.</jats:p>