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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838375/ https://www.ncbi.nlm.nih.gov/pubmed/28739551 http://dx.doi.org/10.4274/jcrpe.4638 |