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

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...

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Bibliographic Details
Main Authors: Chan, Li F, Chung, Teng-Teng, Massoud, Ahmed F, Metherell, Louise A, Clark, Adrian J L
Format: Artigo
Language:Inglês
Published: BioScientifica 2009
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2754377/
https://ncbi.nlm.nih.gov/pubmed/19151134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-08-0636
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