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

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
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
GNAS
Rare disease
Skeletal stem cell
Mouse models
Bone remodeling
Osteoclastogenesis
Online Access:https://doi.org/10.1186/s13023-025-03909-8
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https://doi.org/10.1186/s13023-025-03909-8

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