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Article

Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort.

Annales d'endocrinologie - 1 May 2026

Giannetti Camille, Aouchiche Karine, Lagarde Arnaud, Barets Doriane, Mallet Stéphanie, Salenave Sylvie, Brue Thierry, Reynaud Rachel, Barlier Anne, Romanet Pauline

Abstract excerpt

BACKGROUND: McCune-Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic GNAS activating mutations. MAS is characterized by fibrous dysplasia (FD) of the skeleton, café-au-lait skin macules, and hyperfunctioning endocrinopathies such as precocious puberty, thyroid disease, growth hormone excess, and FGF23-mediated phosphate wasting. Mosaicism leads to marked clinical heterogeneity and complicates...

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Source

Identifiers

PMID: 42103580
DOI: 10.1016/j.ando.2026.102556

Genes

GNAS
MAF
FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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