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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| 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 |