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Article

An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.

The Journal of clinical endocrinology and metabolism - 1 Mar 1994

Malchoff C D, Reardon G, MacGillivray D C, Yamase H, Rogol A D, Malchoff D M

Abstract excerpt

The McCune-Albright syndrome (MAS) is characterized clinically by polyostotic fibrous dysplasia, café-au-lait skin lesions, sexual precocity, and various other endocrinopathies. Recent investigations suggest an etiological role for embryonic somatic missense mutations that predict the substitutio...

Topics

Adult
Base Sequence
DNA
DNA Restriction Enzymes
Female
Fibrous Dysplasia, Polyostotic
GTP-Binding Proteins
Humans
Molecular Probes
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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Identifiers

PMID: 8126161
DOI: 10.1210/jcem.78.3.8126161

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8126161-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.PMID 8126161Read ↗

Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome.Semantic proximity Read ↗

An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.Semantic proximity Read ↗

G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome.Semantic proximity Read ↗

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.Semantic proximity Read ↗

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

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McCune-Albright Syndrome: A Detailed Pathological and Genetic Analysis of Disease Effects in an Adult PatientSemantic proximity Read ↗

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Multidisciplinary approach and clinical management of McCune-Albright syndrome.Semantic proximity Read ↗

A Novel GNAS1 Mutation, R201G, in McCune–Albright SyndromeSemantic proximity Read ↗

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