A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency
Author:
Affiliation:
1. Division of Endocrinology, Department of Pediatrics, Sidra Medicine, Doha, Qatar
2. College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar
Abstract
Funder
Qatar National Research Fund
Publisher
The Endocrine Society
Subject
Endocrinology, Diabetes and Metabolism
Link
https://academic.oup.com/jes/advance-article-pdf/doi/10.1210/jendso/bvac058/43337150/bvac058.pdf
Reference29 articles.
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2. Familial Addison’s disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism;Shepard;AMA J Dis Child.,1959
3. ACTH Receptor (MC2R) specificity: what do we know about underlying molecular mechanisms?;Fridmanis;Front Endocrinol (Lausanne).,2017
4. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2;Chung;Clin Endocrinol (Oxf),2010
5. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans;Hughes;J Clin Invest.,2012
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