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Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant

OBJECTIVE: Patients with pro-opiomelanocortin (POMC) defects generally present with early-onset obesity, hyperphagia, hypopigmentation and adrenocorticotropin (ACTH) deficiency. Rodent models suggest that adequate cleavage of ACTH to α-melanocortin–stimulating hormone (α-MSH) and desacetyl-α-melanoc...

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Detalles Bibliográficos
Autores principales: van der Valk, Eline S, Kleinendorst, Lotte, Delhanty, Patric J D, van der Voorn, Bibian, Visser, Jenny A, van Haelst, M M, de Graaff, Laura C G, Huisman, Martin, White, Anne, Ito, Shosuke, Wakamatsu, Kazumasa, de Rijke, Yolanda B, van den Akker, Erica L T, Iyer, Anand M, van Rossum, Elisabeth F C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9797039/
https://www.ncbi.nlm.nih.gov/pubmed/35737586
http://dx.doi.org/10.1210/clinem/dgac342