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Article

Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.

Human molecular genetics - 15 Dec 2006

Rey Rodolfo A, Venara Marcela, Coutant Régis, Trabut Jean-Baptiste, Rouleau Stéphanie, Lahlou Najiba, Sultan Charles, Limal Jean-Marie, Picard Jean-Yves, Lumbroso Serge

Abstract excerpt

McCune-Albright syndrome (MAS), usually presenting with polyostotic bone dysplasia, café-au-lait skin lesions and sexual precocity, results from a somatic activating mutation of the GNAS1 gene, which encodes the Gs-alpha protein involved in signalling of several G-protein-coupled receptors. The c...

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Identifiers

PMID: 17101633
DOI: 10.1093/hmg/ddl430

Genes

AMH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17101633-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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