A Novel Homozygous <i>MC2R</i> Variant Leading to Type-1 Familial Glucocorticoid Deficiency
<h3>Context</h3><p dir="ltr">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.<...
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2022
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