Journal article icon

Journal article

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Abstract:

Fibrous 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. To address this, our internat...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Oxford college:
Somerville College
Role:
Author
ORCID:
0000-0001-7985-0048
More from this funder
Name:
National Institute for Health Research
Funding agency for:
Javaid, M
Publisher:
BioMed Central
Journal:
Orphanet Journal of Rare Diseases More from this journal
Volume:
14
Article number:
139
Publication date:
2019-06-13
Acceptance date:
2019-05-21
DOI:
ISSN:
1750-1172
Language:
English
Keywords:
Pubs id:
pubs:1021898
UUID:
uuid:0afe972f-6632-4601-87fc-c6fde2fe6660
Local pid:
pubs:1021898
Source identifiers:
1021898
Deposit date:
2019-06-24

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP