Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

Abstract

CONTEXT Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease, characterised by isolated glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Inactivating mutations in the ACTH receptor (melanocortin-2-receptor, MC2R) are well described and account for approximately 25% of cases. By contrast, activating MC2R… (More)
DOI: 10.1530/EJE-08-0636

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@inproceedings{Chan2009FunctionalCO, title={Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations}, author={L. C. F. Chan and Teng-Teng L L Chung and Ahmed F. Massoud and Louise A. Metherell and Adrian J. Clark}, booktitle={European journal of endocrinology}, year={2009} }