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Article

McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping method.

Internal medicine (Tokyo, Japan) - 1 Jan 2007

Imanaka Mari, Iida Keiji, Nishizawa Hitoshi, Fukuoka Hidenori, Takeno Ryoko, Takahashi Kentaro, Kaji Hiroshi, Takahashi Yutaka, Okimura Yasuhiko, Kaji Hidesuke, Imanishi Yasuo, Chihara Kazuo

Abstract excerpt

A 16-year-old girl presented with McCune-Albright syndrome associated with acromegaly and fibrous dysplasia. Brain MRI demonstrated a pituitary tumor. X-ray films showed bone deformities, and 99TmO4 bone scintigraphy revealed increased uptake of radioactivity in the affected bones. Although the s...

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Source

Identifiers

PMID: 17878646
DOI: 10.2169/internalmedicine.46.0048

Genes

GNAS
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17878646-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping method.PMID 17878646Read ↗

Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube.Semantic proximity Read ↗

Searching for somatic mutations in McCune–Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samplesSemantic proximity Read ↗

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.Semantic proximity Read ↗

[Research progress on the pathogenic mechanisms, diagnosis and treatment of McCune-Albright syndrome].Semantic proximity Read ↗

McCune-Albright syndrome and disorders due to activating mutations of GNAS1.Semantic proximity Read ↗

Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome .Semantic proximity Read ↗

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

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