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Article

Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.

Journal of molecular medicine (Berlin, Germany) - 1 Jul 2002

Penhoat A, Naville D, El Mourabit H, Buronfosse A, Berberoglu M, Ocal G, Tsigos C, Durand P, Bégeot M

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by a glucocorticoid adrenal insufficiency without mineralocorticoid deficiency. Mutations of the ACTH receptor (MC2-R) gene have been reported in some FGD cases, but only a few of them have been functionally studied. We reported clinical features and MC2-R gene analysis in three families. For each proband, an homozygous...

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PMID: 12110946
DOI: 10.1007/s00109-002-0333-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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