Orphanet J Rare Dis
November 2019
The original version of this article [1] unfortunately included an error to an author's name. Paul Arundel was inadvertently presented as Paul Arunde.
View Article and Find Full Text PDFFibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments.
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