Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research
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 l...
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| Main Authors: | Biagio Palmisano, Camryn Berry, Alison Boyce, Julia F. Charles, Michael T. Collins, Alessandro Corsi, Fernando A. Fierro, Anne-Marie Heegaard, Hanne van der Heijden, Charles S. Hoffman, Chelsea Hopkins, Jaymin Upadhyay, Paul M. Wehn, Kelly L. Wentworth, Yingzi Yang, Xuefeng Zhao, Edward C. Hsiao, Mara Riminucci |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03909-8 |
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