Browsing by Subject "familial glucocorticoid deficiency"
Now showing items 1-5 of 5
-
The melanocortin receptors and their accessory proteins.
(2013)The five melanocortin receptors (MCRs) named MC1R-MC5R have diverse physiological roles encompassing pigmentation, steroidogenesis, energy homeostasis and feeding behavior as well as exocrine function. Since their ... -
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
(Oxford University Press, 2018-12-03)Context Multiple autosomal recessive genes have been etiologically linked to Primary Adrenal Insufficiency (PAI). Recently, SGPL1 gene mutations were recognized as causes of steroid-resistant nephrotic syndrome type 14 ...