Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity

BACKGROUND: The melanocortinergic pathway orchestrates the energy homeostasis and impairments in this system often lead to an increase in body weight. Rare variants in the melanocortin 4 receptor (MC4R) gene resulting in partial or complete loss of function have been described with autosomal co-domi...

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Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Salum, Kaio Cezar Rodrigues, de Souza, Guilherme Orofino, Abreu, Gabriella de Medeiros, Campos Junior, Mário, Kohlrausch, Fabiana Barzotto, Carneiro, João Regis Ivar, Nogueira Neto, José Firmino, Magno, Fernanda Cristina C. Mattos, Rosado, Eliane Lopes, Palhinha, Lohanna, Maya-Monteiro, Clarissa Menezes, de Cabello, Giselda Maria Kalil, Cabello, Pedro Hernán, Bozza, Patrícia Torres, Zembrzuski, Verônica Marques, da Fonseca, Ana Carolina Proença
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756028/
https://ncbi.nlm.nih.gov/pubmed/33362866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.608840
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