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Article

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

The New England journal of medicine - 12 Dec 1991

Weinstein L S, Shenker A, Gejman P V, Merino M J, Friedman E, Spiegel A M

Abstract excerpt

BACKGROUND: The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands. These manifestations may be explained by a somatic mutation in affected tissues that results in activation of the signal-transduction pathway generating cyclic AMP (cAMP). We analyzed DNA from tissues of patients with...

Topics

Adolescent
Base Sequence
Child, Preschool
Exons
Female
Fibrous Dysplasia, Polyostotic
GTP-Binding Proteins
Gene Amplification
Gene Expression Regulation
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Signal Transduction

Source

Identifiers

PMID: 1944469
DOI: 10.1056/NEJM199112123252403

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1944469-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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