A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency

CONTEXT: Type 1 familial glucocorticoid deficiency (FGD) (OMIM #607397) is a rare autosomal recessive disorder due to mutations in melanocortin-2-receptor (MC2R) gene encoding the G protein-coupled adrenocorticotropic (ACTH) transmembrane receptor. OBJECTIVE: The aim of the study is to describe 2 si...

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Detalles Bibliográficos
Autores principales: Mohammed, Idris, Haris, Basma, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9049112/
https://www.ncbi.nlm.nih.gov/pubmed/35506146
http://dx.doi.org/10.1210/jendso/bvac058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9049112/
https://www.ncbi.nlm.nih.gov/pubmed/35506146
http://dx.doi.org/10.1210/jendso/bvac058

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