McCune-Albright syndrome: new insights
- 1 April 1999
- journal article
- growth and-development
- Published by Wolters Kluwer Health in Current Opinion in Endocrinology, Diabetes and Obesity
- Vol. 6 (2) , 119-125
- https://doi.org/10.1097/00060793-199904000-00006
Abstract
McCune-Albright syndrome is a rare disease caused by an activating mutation in the gene for the G protein subunit (GSα) that stimulates cellular cyclic AMP formation. The mutation occurs early during embryogenesis and results in a variable constellation of abnormalities involving bone, skin, endocrine glands, and other tissues. Although traditionally regarded as a disease of children, clinical manifestations may progress into adulthood. Efforts are being made to define the precise mechanisms by which inappropriate GSα activation affects cellular proliferation and differentiated function and to develop more effective means to treat fibrous dysplasia of bone.Keywords
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