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

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.

Detalles Bibliográficos
Autores principales: Funcke, Jan-Bernd, von Schnurbein, Julia, Lennerz, Belinda, Lahr, Georgia, Debatin, Klaus-Michael, Fischer-Posovszky, Pamela, Wabitsch, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644131/
https://www.ncbi.nlm.nih.gov/pubmed/26567097
http://dx.doi.org/10.1186/s40348-014-0003-1
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author Funcke, Jan-Bernd
von Schnurbein, Julia
Lennerz, Belinda
Lahr, Georgia
Debatin, Klaus-Michael
Fischer-Posovszky, Pamela
Wabitsch, Martin
author_facet Funcke, Jan-Bernd
von Schnurbein, Julia
Lennerz, Belinda
Lahr, Georgia
Debatin, Klaus-Michael
Fischer-Posovszky, Pamela
Wabitsch, Martin
author_sort Funcke, Jan-Bernd
collection PubMed
description 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.
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spelling pubmed-46441312015-11-19 Monogenic forms of childhood obesity due to mutations in the leptin gene Funcke, Jan-Bernd von Schnurbein, Julia Lennerz, Belinda Lahr, Georgia Debatin, Klaus-Michael Fischer-Posovszky, Pamela Wabitsch, Martin Mol Cell Pediatr Review 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. Springer Berlin Heidelberg 2014-09-04 /pmc/articles/PMC4644131/ /pubmed/26567097 http://dx.doi.org/10.1186/s40348-014-0003-1 Text en © Funcke et al. ; Licensee Springer 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Funcke, Jan-Bernd
von Schnurbein, Julia
Lennerz, Belinda
Lahr, Georgia
Debatin, Klaus-Michael
Fischer-Posovszky, Pamela
Wabitsch, Martin
Monogenic forms of childhood obesity due to mutations in the leptin gene
title Monogenic forms of childhood obesity due to mutations in the leptin gene
title_full Monogenic forms of childhood obesity due to mutations in the leptin gene
title_fullStr Monogenic forms of childhood obesity due to mutations in the leptin gene
title_full_unstemmed Monogenic forms of childhood obesity due to mutations in the leptin gene
title_short Monogenic forms of childhood obesity due to mutations in the leptin gene
title_sort monogenic forms of childhood obesity due to mutations in the leptin gene
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644131/
https://www.ncbi.nlm.nih.gov/pubmed/26567097
http://dx.doi.org/10.1186/s40348-014-0003-1
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