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Article

Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

The Journal of clinical endocrinology and metabolism - 1 May 2004

Lumbroso Serge, Paris Françoise, Sultan Charles

Abstract excerpt

McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and peripheral precocious puberty. It is due to postzygotic activating mutations of arginine 201 in the guanine-nucleotide-binding protein (G protein) alpha-subunit (Gsalpha), leading to a mosaic distribution of cells bearing constitutively active adenylate...

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Identifiers

PMID: 15126527
DOI: 10.1210/jc.2003-031225

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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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