Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review

Proopiomelanocortin (POMC) deficiency is an extremely rare inherited autosomal recessive disorder characterized by severe obesity, adrenal insufficiency, skin hypopigmentation, and red hair. It is caused by pathogenic variants in the POMC gene that codes the proopiomelanocortin polypeptide which is...

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Gardado en:
Detalles Bibliográficos
Publicado en:Front Endocrinol (Lausanne)
Main Authors: Gregoric, Nadan, Groselj, Urh, Bratina, Natasa, Debeljak, Marusa, Zerjav Tansek, Mojca, Suput Omladic, Jasna, Kovac, Jernej, Battelino, Tadej, Kotnik, Primoz, Avbelj Stefanija, Magdalena
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2021
Assuntos:
Endocrinology
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8220084/
https://ncbi.nlm.nih.gov/pubmed/34177811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2021.689387
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