A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Çetinkaya, Semra, Güran, Tülay, Kurnaz, Erdal, Keskin, Melikşah, Sağsak, Elif, Savaş Erdeve, Senay, Suntharalingham, Jenifer P., Buonocore, Federica, Achermann, John C., Aycan, Zehra
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838375/
https://ncbi.nlm.nih.gov/pubmed/28739551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.4638
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