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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gregoric, Nadan, Groselj, Urh, Bratina, Natasa, Debeljak, Marusa, Zerjav Tansek, Mojca, Suput Omladic, Jasna, Kovac, Jernej, Battelino, Tadej, Kotnik, Primoz, Avbelj Stefanija, Magdalena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220084/
https://www.ncbi.nlm.nih.gov/pubmed/34177811
http://dx.doi.org/10.3389/fendo.2021.689387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220084/
https://www.ncbi.nlm.nih.gov/pubmed/34177811
http://dx.doi.org/10.3389/fendo.2021.689387

Ejemplares similares