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Article

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

European journal of endocrinology - 1 Apr 2009

Chan Li F, Chung Teng-Teng, Massoud Ahmed F, Metherell Louise A, Clark Adrian J L

Abstract excerpt

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 mutations are extremely rare. PATIENT: We report a child of...

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Identifiers

PMID: 19151134
DOI: 10.1530/EJE-08-0636
PMCID: PMC2754377

Genes

MRAP

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.PMID 19151134Read ↗

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