Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights

McCune-Albright Syndrome (MAS) is a rare mosaic (post-zygotic) genetic disorder presenting with a broad continuum clinical spectrum. MAS arises from somatic, activating mutations in the GNAS gene, which induces a dysregulated Gsα-protein signaling in several tissues and an increased production of in...

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Detalles Bibliográficos
Autores principales: Mascioli, Ilaria, Iapadre, Giulia, Ingrosso, Diletta, Donato, Giulio Di, Giannini, Cosimo, Salpietro, Vincenzo, Chiarelli, Francesco, Farello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235602/
https://www.ncbi.nlm.nih.gov/pubmed/37274327
http://dx.doi.org/10.3389/fendo.2023.1092252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235602/
https://www.ncbi.nlm.nih.gov/pubmed/37274327
http://dx.doi.org/10.3389/fendo.2023.1092252

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