Open AccessMedicineBiology

J. Funcke, J. von Schnurbein, B. Lennerz, G. Lahr, K. Debatin, P. Fischer-Posovszky, M. Wabitsch

2014.9.4Molecular and Cellular Pediatrics

DOI: 10.1186/s40348-014-0003-1

tlooto Summary

This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans caused by mutations in the leptin gene.

Abstract

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.

Citation format

FUNCKE, J., et al. Monogenic forms of childhood obesity due to mutations in the leptin gene. Molecular and Cellular Pediatrics, 2014, 1.