A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report

BACKGROUND: Melanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in MC2R are associated with family glucocorticoid deficiency 1 (FGD1). CASE PRESENTATION: We first reported a Chinese family with tw...

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Detalles Bibliográficos
Autores principales: Liu, ShuPing, Zeng, Ting, Luo, Cheng, Peng, DanXia, Xu, Xuan, Liu, Qin, Wu, Qiong, Lu, Qin, Huang, FuRong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003339/
https://www.ncbi.nlm.nih.gov/pubmed/36909322
http://dx.doi.org/10.3389/fendo.2023.1113234

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003339/
https://www.ncbi.nlm.nih.gov/pubmed/36909322
http://dx.doi.org/10.3389/fendo.2023.1113234

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