Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research

Abstract excerpt

Abstract Fibrous dysplasia/McCune Albright syndrome (FD/MAS) is a rare genetic disease caused by postzygotic activating variants in the GNAS gene, encoding the α subunit of stimulatory G protein (Gαs). Although multiple organs may be involved, skeletal lesions usually represent the most severe and least treatable expression of the disease, leading to bone deformities, spontaneous fractures, and chronic pain that...

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