Associated Papers
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I et al.
Journal of the Endocrine Society, 2022
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.
Chan LF et al.
European Journal of Endocrinology, 2009
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Select a paper to view details