Associated Papers
A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report.
Liu S et al.
Frontiers in Endocrinology, 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
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
Abuduxikuer K et al.
Frontiers in Endocrinology, 2019
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.
Mazur A et al.
Hormone Research, 2008
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