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Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα (s) Activation

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic Gα (s) activation and inappropriate production of intracellular cyclic adenosine monophosphate (cAMP). The clinical phenotype i...

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Détails bibliographiques
Publié dans:Endocr Rev
Auteurs principaux: Boyce, Alison M, Collins, Michael T
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7127130/
https://ncbi.nlm.nih.gov/pubmed/31673695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/endrev/bnz011
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