Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

CONTEXT: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We recently characterized a mutation in the leptin gene (p.D100Y), which was associated with detectable leptin levels and bioinactivity of the hormone. CASE DESCRIPTION: We now describe two siblings, a 9-year-o...

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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: Wabitsch, Martin, Funcke, Jan-Bernd, von Schnurbein, Julia, Denzer, Friederike, Lahr, Georgia, Mazen, Inas, El-Gammal, Mona, Denzer, Christian, Moss, Anja, Debatin, Klaus-Michael, Gierschik, Peter, Mistry, Vanisha, Keogh, Julia M., Farooqi, I. Sadaf, Moepps, Barbara, Fischer-Posovszky, Pamela
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2015
Témata:
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4570156/
https://ncbi.nlm.nih.gov/pubmed/26186301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-2263
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