Associated Papers
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
Duan Y et al.
Molecular Syndromology, 2023
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
32952553 (PubMed )
Supplement: 2190508.f1.docx
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
Jain V et al.
European Journal of Endocrinology, 2011
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.
Hughes CR et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Select a paper to view details